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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:SLC25A46-FMR1 (FusionGDB2 ID:HG91137TG2332) |
Fusion Gene Summary for SLC25A46-FMR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC25A46-FMR1 | Fusion gene ID: hg91137tg2332 | Hgene | Tgene | Gene symbol | SLC25A46 | FMR1 | Gene ID | 91137 | 2332 |
| Gene name | solute carrier family 25 member 46 | FMRP translational regulator 1 | |
| Synonyms | HMSN6B | FMRP|FRAXA|POF|POF1 | |
| Cytomap | ('SLC25A46')('FMR1') 5q22.1 | Xq27.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | solute carrier family 25 member 46 | synaptic functional regulator FMR1fragile X mental retardation 1fragile X mental retardation protein 1truncated FMRP | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q06787 | |
| Ensembl transtripts involved in fusion gene | ENST00000513706, ENST00000355943, ENST00000447245, ENST00000504098, ENST00000509432, ENST00000509442, ENST00000513807, | ||
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 4 X 4 X 1=16 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SLC25A46 [Title/Abstract] AND FMR1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SLC25A46(110100559)-FMR1(147006742), # 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) |
| 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 | SLC25A46 | GO:0090149 | mitochondrial membrane fission | 26168012 |
| Tgene | FMR1 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 18653529 |
| Tgene | FMR1 | GO:0002092 | positive regulation of receptor internalization | 25561520 |
| Tgene | FMR1 | GO:0006974 | cellular response to DNA damage stimulus | 24813610 |
| Tgene | FMR1 | GO:0033129 | positive regulation of histone phosphorylation | 24813610 |
| Tgene | FMR1 | GO:0045727 | positive regulation of translation | 19097999|19166269 |
| Tgene | FMR1 | GO:0051489 | regulation of filopodium assembly | 16631377 |
| Tgene | FMR1 | GO:0060998 | regulation of dendritic spine development | 16631377 |
| Tgene | FMR1 | GO:0098586 | cellular response to virus | 24514761 |
| Tgene | FMR1 | GO:0098908 | regulation of neuronal action potential | 25561520 |
| Tgene | FMR1 | GO:1902416 | positive regulation of mRNA binding | 25464849 |
| Tgene | FMR1 | GO:2000637 | positive regulation of gene silencing by miRNA | 17057366 |
| Tgene | FMR1 | GO:2001022 | positive regulation of response to DNA damage stimulus | 24813610 |
| 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 |
| ChiTaRS5.0 | N/A | BE813282 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
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Fusion Gene ORF analysis for SLC25A46-FMR1 |
| 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-intron | ENST00000513706 | ENST00000218200 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| 3UTR-intron | ENST00000513706 | ENST00000334557 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| 3UTR-intron | ENST00000513706 | ENST00000370470 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| 3UTR-intron | ENST00000513706 | ENST00000370471 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| 3UTR-intron | ENST00000513706 | ENST00000370475 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| 3UTR-intron | ENST00000513706 | ENST00000370477 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| 3UTR-intron | ENST00000513706 | ENST00000439526 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| 3UTR-intron | ENST00000513706 | ENST00000440235 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| 3UTR-intron | ENST00000513706 | ENST00000492846 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000355943 | ENST00000218200 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000355943 | ENST00000334557 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000355943 | ENST00000370470 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000355943 | ENST00000370471 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000355943 | ENST00000370475 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000355943 | ENST00000370477 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000355943 | ENST00000439526 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000355943 | ENST00000440235 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000355943 | ENST00000492846 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000447245 | ENST00000218200 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000447245 | ENST00000334557 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000447245 | ENST00000370470 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000447245 | ENST00000370471 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000447245 | ENST00000370475 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000447245 | ENST00000370477 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000447245 | ENST00000439526 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000447245 | ENST00000440235 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000447245 | ENST00000492846 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000504098 | ENST00000218200 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000504098 | ENST00000334557 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000504098 | ENST00000370470 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000504098 | ENST00000370471 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000504098 | ENST00000370475 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000504098 | ENST00000370477 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000504098 | ENST00000439526 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000504098 | ENST00000440235 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000504098 | ENST00000492846 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509432 | ENST00000218200 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509432 | ENST00000334557 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509432 | ENST00000370470 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509432 | ENST00000370471 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509432 | ENST00000370475 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509432 | ENST00000370477 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509432 | ENST00000439526 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509432 | ENST00000440235 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509432 | ENST00000492846 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509442 | ENST00000218200 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509442 | ENST00000334557 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509442 | ENST00000370470 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509442 | ENST00000370471 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509442 | ENST00000370475 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509442 | ENST00000370477 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509442 | ENST00000439526 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509442 | ENST00000440235 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000509442 | ENST00000492846 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000513807 | ENST00000218200 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000513807 | ENST00000334557 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000513807 | ENST00000370470 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000513807 | ENST00000370471 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000513807 | ENST00000370475 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000513807 | ENST00000370477 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000513807 | ENST00000439526 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000513807 | ENST00000440235 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| intron-intron | ENST00000513807 | ENST00000492846 | SLC25A46 | chr5 | 110100559 | - | FMR1 | chrX | 147006742 | - |
| 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 SLC25A46-FMR1 |
| 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) |
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Fusion Protein Features for SLC25A46-FMR1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:110100559/:147006742) - 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 |
| . | FMR1 |
| 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: Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs (PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Plays a role in the alternative splicing of its own mRNA (PubMed:18653529). Plays a role in mRNA nuclear export (By similarity). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 and the myelin basic protein (MBP) mRNAs in hippocampal neurons and glial cells, respectively; this stabilization is further increased in response to metabotropic glutamate receptor (mGluR) stimulation (By similarity). Plays a role in selective delivery of a subset of dendritic mRNAs to synaptic sites in response to mGluR activation in a kinesin-dependent manner (By similarity). Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postsynaptic dendritic spines (PubMed:11532944, PubMed:11157796, PubMed:12594214, PubMed:23235829). Component of the CYFIP1-EIF4E-FMR1 complex which blocks cap-dependent mRNA translation initiation (By similarity). Represses mRNA translation by stalling ribosomal translocation during elongation (By similarity). Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes (PubMed:23891804). Also involved in the recruitment of the RNA helicase MOV10 to a subset of mRNAs and hence regulates microRNA (miRNA)-mediated translational repression by AGO2 (PubMed:14703574, PubMed:17057366, PubMed:25464849). Facilitates the assembly of miRNAs on specific target mRNAs (PubMed:17057366). Plays also a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses (PubMed:19097999, PubMed:19166269). In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses (By similarity). Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions (PubMed:7692601, PubMed:11719189, PubMed:11157796, PubMed:12594214, PubMed:17417632, PubMed:23235829, PubMed:24448548). Binds to 5'-ACU[GU]-3' and/or 5'-[AU]GGA-3' RNA consensus sequences within mRNA targets, mainly at coding sequence (CDS) and 3'-untranslated region (UTR) and less frequently at 5'-UTR (PubMed:23235829). Binds to intramolecular G-quadruplex structures in the 5'- or 3'-UTRs of mRNA targets (PubMed:11719189, PubMed:18579868, PubMed:25464849, PubMed:25692235). Binds to G-quadruplex structures in the 3'-UTR of its own mRNA (PubMed:7692601, PubMed:11532944, PubMed:12594214, PubMed:15282548, PubMed:18653529). Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes (PubMed:15805463). Binds mRNAs containing U-rich target sequences (PubMed:12927206). Binds to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the 5'-UTR region of superoxide dismutase SOD1 mRNA (PubMed:19166269). Binds to the dendritic, small non-coding brain cytoplasmic RNA 1 (BC1); which may increase the association of the CYFIP1-EIF4E-FMR1 complex to FMR1 target mRNAs at synapses (By similarity). Associates with export factor NXF1 mRNA-containing ribonucleoprotein particles (mRNPs) in a NXF2-dependent manner (By similarity). Binds to a subset of miRNAs in the brain (PubMed:14703574, PubMed:17057366). May associate with nascent transcripts in a nuclear protein NXF1-dependent manner (PubMed:18936162). In vitro, binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:7688265, PubMed:7781595, PubMed:12950170, PubMed:15381419, PubMed:8156595). Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity (PubMed:20512134). Negatively regulates the voltage-dependent calcium channel current density in soma and presynaptic terminals of dorsal root ganglion (DRG) neurons, and hence regulates synaptic vesicle exocytosis (By similarity). Modulates the voltage-dependent calcium channel CACNA1B expression at the plasma membrane by targeting the channels for proteosomal degradation (By similarity). Plays a role in regulation of MAP1B-dependent microtubule dynamics during neuronal development (By similarity). Recently, has been shown to play a translation-independent role in the modulation of presynaptic action potential (AP) duration and neurotransmitter release via large-conductance calcium-activated potassium (BK) channels in hippocampal and cortical excitatory neurons (PubMed:25561520). Finally, FMR1 may be involved in the control of DNA damage response (DDR) mechanisms through the regulation of ATR-dependent signaling pathways such as histone H2AX/H2A.x and BRCA1 phosphorylations (PubMed:24813610). {ECO:0000250|UniProtKB:P35922, ECO:0000250|UniProtKB:Q80WE1, ECO:0000269|PubMed:11157796, ECO:0000269|PubMed:11532944, ECO:0000269|PubMed:11719189, ECO:0000269|PubMed:12594214, ECO:0000269|PubMed:12927206, ECO:0000269|PubMed:12950170, ECO:0000269|PubMed:14703574, ECO:0000269|PubMed:15282548, ECO:0000269|PubMed:15381419, ECO:0000269|PubMed:15805463, ECO:0000269|PubMed:16631377, ECO:0000269|PubMed:17057366, ECO:0000269|PubMed:17417632, ECO:0000269|PubMed:18579868, ECO:0000269|PubMed:18653529, ECO:0000269|PubMed:18936162, ECO:0000269|PubMed:19097999, ECO:0000269|PubMed:19166269, ECO:0000269|PubMed:20512134, ECO:0000269|PubMed:23235829, ECO:0000269|PubMed:23891804, ECO:0000269|PubMed:24448548, ECO:0000269|PubMed:24813610, ECO:0000269|PubMed:25464849, ECO:0000269|PubMed:25561520, ECO:0000269|PubMed:25692235, ECO:0000269|PubMed:7688265, ECO:0000269|PubMed:7692601, ECO:0000269|PubMed:7781595, ECO:0000269|PubMed:8156595}.; FUNCTION: [Isoform 10]: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304). {ECO:0000269|PubMed:24204304}.; FUNCTION: [Isoform 6]: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304). {ECO:0000269|PubMed:24204304}.; FUNCTION: (Microbial infection) Acts as a positive regulator of influenza A virus (IAV) replication. Required for the assembly and nuclear export of the viral ribonucleoprotein (vRNP) components. {ECO:0000269|PubMed:24514761}. |
| 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 SLC25A46-FMR1 |
| 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 SLC25A46-FMR1 |
| 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 SLC25A46-FMR1 |
| 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 SLC25A46-FMR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SLC25A46 | C4225302 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | SLC25A46 | C0007959 | Charcot-Marie-Tooth Disease | 1 | CTD_human |
| Hgene | SLC25A46 | C0029124 | Optic Atrophy | 1 | CTD_human |
| Hgene | SLC25A46 | C0205713 | Roussy-Levy Syndrome (disorder) | 1 | CTD_human |
| Hgene | SLC25A46 | C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | 1 | CTD_human |
| Hgene | SLC25A46 | C0270912 | Charcot-Marie-Tooth Disease, Type Ib | 1 | CTD_human |
| Hgene | SLC25A46 | C0270914 | Hereditary Motor and Sensory-Neuropathy Type II | 1 | CTD_human |
| Hgene | SLC25A46 | C0393807 | Hereditary motor and sensory neuropathy with optic atrophy (disorder) | 1 | ORPHANET |
| Hgene | SLC25A46 | C0751036 | Hereditary Motor and Sensory Neuropathy Type I | 1 | CTD_human |
| Tgene | C0016667 | Fragile X Syndrome | 37 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0751156 | FRAXA Syndrome | 8 | CTD_human | |
| Tgene | C0751157 | FRAXE Syndrome | 8 | CTD_human | |
| Tgene | C0004352 | Autistic Disorder | 5 | CTD_human | |
| Tgene | C0020796 | Profound Mental Retardation | 2 | CTD_human | |
| Tgene | C0025363 | Mental Retardation, Psychosocial | 2 | CTD_human | |
| Tgene | C0036341 | Schizophrenia | 2 | PSYGENET | |
| Tgene | C0041696 | Unipolar Depression | 2 | PSYGENET | |
| Tgene | C0376634 | Craniofacial Abnormalities | 2 | CTD_human | |
| Tgene | C0917816 | Mental deficiency | 2 | CTD_human | |
| Tgene | C1269683 | Major Depressive Disorder | 2 | PSYGENET | |
| Tgene | C1839780 | FRAGILE X TREMOR/ATAXIA SYNDROME | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
| Tgene | C3714756 | Intellectual Disability | 2 | CTD_human | |
| Tgene | C0000768 | Congenital Abnormality | 1 | CTD_human | |
| Tgene | C0003469 | Anxiety Disorders | 1 | CTD_human | |
| Tgene | C0009241 | Cognition Disorders | 1 | CTD_human | |
| Tgene | C0018051 | Gonadal Dysgenesis | 1 | CTD_human | |
| Tgene | C0085215 | Ovarian Failure, Premature | 1 | CTD_human | |
| Tgene | C0086132 | Depressive Symptoms | 1 | PSYGENET | |
| Tgene | C0086367 | Gonadotropin-Resistant Ovary Syndrome | 1 | CTD_human | |
| Tgene | C0282631 | Facies | 1 | CTD_human | |
| Tgene | C0338908 | Mixed anxiety and depressive disorder | 1 | PSYGENET | |
| Tgene | C0376280 | Anxiety States, Neurotic | 1 | CTD_human | |
| Tgene | C0949331 | Gonadal Agenesis | 1 | CTD_human | |
| Tgene | C1279420 | Anxiety neurosis (finding) | 1 | CTD_human | |
| Tgene | C2678248 | Mood instability | 1 | PSYGENET | |
| Tgene | C3275521 | CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME | 1 | ORPHANET | |
| Tgene | C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | 1 | CTD_human | |
| Tgene | C4552079 | Premature Ovarian Failure 1 | 1 | CTD_human;GENOMICS_ENGLAND |
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