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Fusion gene ID: 36799 |
FusionGeneSummary for SUPV3L1_VPS26A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SUPV3L1_VPS26A | Fusion gene ID: 36799 | Hgene | Tgene | Gene symbol | SUPV3L1 | VPS26A | Gene ID | 6832 | 9559 |
| Gene name | Suv3 like RNA helicase | VPS26, retromer complex component A | |
| Synonyms | SUV3 | HB58|Hbeta58|PEP8A|VPS26 | |
| Cytomap | 10q22.1 | 10q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-dependent RNA helicase SUPV3L1, mitochondrialSUV3-like helicaseSUV3-like protein 1suppressor of var1, 3-like 1suppressor of var1, 3-like 1(SUV3) | vacuolar protein sorting-associated protein 26AVPS26 retromer complex comonent Avacuolar protein sorting 26 homolog Avesicle protein sorting 26A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8IYB8 | O75436 | |
| Ensembl transtripts involved in fusion gene | ENST00000359655, ENST00000483572, | ENST00000373382, ENST00000263559, ENST00000395098, ENST00000546041, ENST00000490696, ENST00000541711, ENST00000489794, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 4 X 4=96 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SUPV3L1 [Title/Abstract] AND VPS26A [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 | SUPV3L1 | GO:0000962 | positive regulation of mitochondrial RNA catabolic process | 19509288 |
| 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 | RV | OV | TCGA-36-1578-01A | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| * 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 | ENST00000359655 | ENST00000373382 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| In-frame | ENST00000359655 | ENST00000263559 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| In-frame | ENST00000359655 | ENST00000395098 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| In-frame | ENST00000359655 | ENST00000546041 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| 5CDS-intron | ENST00000359655 | ENST00000490696 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| 5CDS-intron | ENST00000359655 | ENST00000541711 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| 5CDS-intron | ENST00000359655 | ENST00000489794 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| intron-3CDS | ENST00000483572 | ENST00000373382 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| intron-3CDS | ENST00000483572 | ENST00000263559 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| intron-3CDS | ENST00000483572 | ENST00000395098 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| intron-3CDS | ENST00000483572 | ENST00000546041 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| intron-intron | ENST00000483572 | ENST00000490696 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| intron-intron | ENST00000483572 | ENST00000541711 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
| intron-intron | ENST00000483572 | ENST00000489794 | SUPV3L1 | chr10 | 70962799 | + | VPS26A | chr10 | 70915568 | + |
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FusionProtFeatures for SUPV3L1_VPS26A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SUPV3L1 | VPS26A |
| Major helicase player in mitochondrial RNA metabolism.Component of the mitochondrial degradosome (mtEXO) complex, thatdegrades 3' overhang double-stranded RNA with a 3'-to-5'directionality in an ATP-dependent manner. ATPase and ATP-dependent multisubstrate helicase, able to unwind double-stranded(ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5'-to-3'direction. Plays a role in the RNA surveillance system inmitochondria; regulates the stability of mature mRNAs, the removalof aberrantly formed mRNAs and the rapid degradation of non codingprocessing intermediates. Also implicated in recombination andchromatin maintenance pathways. May protect cells from apoptosis.Associates with mitochondrial DNA. {ECO:0000269|PubMed:12466530,ECO:0000269|PubMed:15096047, ECO:0000269|PubMed:17352692,ECO:0000269|PubMed:17961633, ECO:0000269|PubMed:18678873,ECO:0000269|PubMed:19509288, ECO:0000269|PubMed:19864255}. | Acts as component of the retromer cargo-selectivecomplex (CSC). The CSC is believed to be the core functionalcomponent of retromer or respective retromer complex variantsacting to prevent missorting of selected transmembrane cargoproteins into the lysosomal degradation pathway. The recruitmentof the CSC to the endosomal membrane involves RAB7A and SNX3. TheSNX-BAR retromer mediates retrograde transport of cargo proteinsfrom endosomes to the trans-Golgi network (TGN) and is involved inendosome-to-plasma membrane transport for cargo protein recycling.The SNX3-retromer mediates the retrograde endosome-to-TGNtransport of WLS distinct from the SNX-BAR retromer pathway. TheSNX27-retromer is believed to be involved in endosome-to-plasmamembrane trafficking and recycling of a broad spectrum of cargoproteins (Probable). The CSC seems to act as recruitment hub forother proteins, such as the WASH complex and TBC1D5 (Probable).Required for retrograde transport of lysosomal enzyme receptorIGF2R (PubMed:15078902, PubMed:15078903). Required to regulatetranscytosis of the polymeric immunoglobulin receptor (pIgR-pIgA)(PubMed:15247922). Required for the endosomal localization ofWASHC2A (indicative for the WASH complex) (PubMed:22070227).Required for the endosomal localization of TBC1D5(PubMed:20923837). Mediates retromer cargo recognition of SORL1and is involved in trafficking of SORL1 implicated in sorting andprocessing of APP (PubMed:22279231). Involved in retromer-independent lysosomal sorting of F2R (PubMed:16407403). Involvedin recycling of ADRB2 (PubMed:21602791). Enhances the affinity ofSNX27 for PDZ-binding motifs in cargo proteins (By similarity).{ECO:0000250|UniProtKB:P40336, ECO:0000269|PubMed:15078902,ECO:0000269|PubMed:15078903, ECO:0000269|PubMed:15247922,ECO:0000269|PubMed:16407403, ECO:0000269|PubMed:22070227,ECO:0000269|PubMed:22279231, ECO:0000303|PubMed:20923837,ECO:0000303|PubMed:21602791, ECO:0000303|PubMed:21725319,ECO:0000303|PubMed:23563491, 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 |
| Hgene | SUPV3L1 | chr10:70962799 | chr10:70915568 | ENST00000359655 | + | 13 | 15 | 194_334 | 592 | 787 | Domain | Note=Helicase ATP-binding |
| Hgene | SUPV3L1 | chr10:70962799 | chr10:70915568 | ENST00000359655 | + | 13 | 15 | 353_518 | 592 | 787 | Domain | Helicase C-terminal |
| Hgene | SUPV3L1 | chr10:70962799 | chr10:70915568 | ENST00000359655 | + | 13 | 15 | 207_214 | 592 | 787 | Nucleotide binding | ATP |
| - 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 SUPV3L1_VPS26A |
| 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 SUPV3L1_VPS26A |
| 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 |
| SUPV3L1 | ICT1, ELAVL1, CUL3, LZTS2, ZMAT3, HNRNPDL, HNRNPA1, NTRK1, CDC5L, PNPT1, ELAVL2, MRPS11, RBM3, MRPS34, USP9X, RBM42, HNRNPF, ZNF703, WASF3, BHLHA15 | VPS26A | RYK, ELAVL1, MUL1, TBC1D5, KIAA0368, ANKFY1, EHD1, VPS29, VPS35, VPS36, HDLBP, ZPR1, VPS25, UBQLN1, UBE4B, USP1, SSSCA1, UBE2V2, TTC4, RUFY1, VPS4B, UBXN7, UBQLN4, HSPA4L, PTPN23, UNK, THUMPD3, PUM1, ERCC4, AHCYL1, PSMC2, ATP6V1F, FN1, MAGEL2, VPS26A, APEH, CORO1B, CORO1C, ETF1, FAM129B, H3F3A, JMJD6, NMI, NUDC, PSMG3, SEC24A, TARS, CYHR1, DDI2, DNM1L, H1FX, HIST1H1E, NAA10, NAA15, STAT1, TBC1D15, RIOK2, VPS26B, MCM7, RAB7A, SAC3D1, SNX1, SNX2, NTRK1, BCS1L, CAPZB, COX6B1, MIF, NFKB1, RBM4, BAG6, SYMPK, UBL4A, MPDZ, NOLC1, LCMT2, KIAA0196, ZER1, CRTAP, CELF1, SDCCAG3, CPSF6, FKBP15, KIAA1033, INTS7, RAI14, RBM26, P3H1, BHLHE41, CD99L2, ANKRD27, CIRH1A, C2orf69, FAM21C, FAM102B, FAM21A, DUSP8, FGB, ARHGAP44, TINAG, WASH1 |
| - 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 |
| Hgene | SUPV3L1 | chr10:70962799 | chr10:70915568 | ENST00000359655 | + | 13 | 15 | 650_786 | 592 | 787 | LAMTOR5%2C important for protein stability |
| - 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 SUPV3L1_VPS26A |
| 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 SUPV3L1_VPS26A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SUPV3L1 | C0002170 | Alopecia | 1 | CTD_human |
| Hgene | SUPV3L1 | C0020757 | Ichthyoses | 1 | CTD_human |
| Hgene | SUPV3L1 | C0037268 | Skin Abnormalities | 1 | CTD_human |
| Hgene | SUPV3L1 | C0872084 | Sarcopenia | 1 | CTD_human |
| Tgene | VPS26A | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
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