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Fusion gene ID: 41406 |
FusionGeneSummary for VCP_C9orf131 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VCP_C9orf131 | Fusion gene ID: 41406 | Hgene | Tgene | Gene symbol | VCP | C9orf131 | Gene ID | 7415 | 138724 |
| Gene name | valosin containing protein | chromosome 9 open reading frame 131 | |
| Synonyms | CDC48|TERA|p97 | - | |
| Cytomap | 9p13.3 | 9p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transitional endoplasmic reticulum ATPase15S Mg(2+)-ATPase p97 subunitTER ATPase | uncharacterized protein C9orf131 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P55072 | Q5VYM1 | |
| Ensembl transtripts involved in fusion gene | ENST00000358901, | ENST00000421362, ENST00000354479, ENST00000312292, | |
| Fusion gene scores | * DoF score | 7 X 9 X 3=189 | 1 X 1 X 1=1 |
| # samples | 10 | 1 | |
| ** MAII score | log2(10/189*10)=-0.918386234446348 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: VCP [Title/Abstract] AND C9orf131 [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 | VCP | GO:0006302 | double-strand break repair | 10855792|22120668 |
| Hgene | VCP | GO:0006974 | cellular response to DNA damage stimulus | 16140914|22120668|23042605 |
| Hgene | VCP | GO:0016567 | protein ubiquitination | 22120668 |
| Hgene | VCP | GO:0030433 | ubiquitin-dependent ERAD pathway | 17872946 |
| Hgene | VCP | GO:0030970 | retrograde protein transport, ER to cytosol | 15215856 |
| Hgene | VCP | GO:0031334 | positive regulation of protein complex assembly | 18775313 |
| Hgene | VCP | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 9452483 |
| Hgene | VCP | GO:0036503 | ERAD pathway | 25088257 |
| Hgene | VCP | GO:0045732 | positive regulation of protein catabolic process | 11483959|18775313 |
| Hgene | VCP | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 28689657 |
| Hgene | VCP | GO:1903006 | positive regulation of protein K63-linked deubiquitination | 22970133 |
| Hgene | VCP | GO:1903007 | positive regulation of Lys63-specific deubiquitinase activity | 22970133 |
| 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 | LGG | TCGA-E1-5304-01A | VCP | chr9 | 35072334 | - | C9orf131 | chr9 | 35042858 | + |
| * 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 |
| Frame-shift | ENST00000358901 | ENST00000421362 | VCP | chr9 | 35072334 | - | C9orf131 | chr9 | 35042858 | + |
| Frame-shift | ENST00000358901 | ENST00000354479 | VCP | chr9 | 35072334 | - | C9orf131 | chr9 | 35042858 | + |
| Frame-shift | ENST00000358901 | ENST00000312292 | VCP | chr9 | 35072334 | - | C9orf131 | chr9 | 35042858 | + |
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FusionProtFeatures for VCP_C9orf131 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VCP | C9orf131 |
| Necessary for the fragmentation of Golgi stacks duringmitosis and for their reassembly after mitosis. Involved in theformation of the transitional endoplasmic reticulum (tER). Thetransfer of membranes from the endoplasmic reticulum to the Golgiapparatus occurs via 50-70 nm transition vesicles which derivefrom part-rough, part-smooth transitional elements of theendoplasmic reticulum (tER). Vesicle budding from the tER is anATP-dependent process. The ternary complex containing UFD1, VCPand NPLOC4 binds ubiquitinated proteins and is necessary for theexport of misfolded proteins from the ER to the cytoplasm, wherethey are degraded by the proteasome. The NPLOC4-UFD1-VCP complexregulates spindle disassembly at the end of mitosis and isnecessary for the formation of a closed nuclear envelope.Regulates E3 ubiquitin-protein ligase activity of RNF19A.Component of the VCP/p97-AMFR/gp78 complex that participates inthe final step of the sterol-mediated ubiquitination andendoplasmic reticulum-associated degradation (ERAD) of HMGCR.Involved in endoplasmic reticulum stress-induced pre-emptivequality control, a mechanism that selectively attenuates thetranslocation of newly synthesized proteins into the endoplasmicreticulum and reroutes them to the cytosol for proteasomaldegradation (PubMed:26565908). Also involved in DNA damageresponse: recruited to double-strand breaks (DSBs) sites in aRNF8- and RNF168-dependent manner and promotes the recruitment ofTP53BP1 at DNA damage sites (PubMed:22020440, PubMed:22120668).Recruited to stalled replication forks by SPRTN: may act bymediating extraction of DNA polymerase eta (POLH) to preventexcessive translesion DNA synthesis and limit the incidence ofmutations induced by DNA damage (PubMed:23042607,PubMed:23042605). Required for cytoplasmic retrotranslocation ofstressed/damaged mitochondrial outer-membrane proteins and theirsubsequent proteasomal degradation (PubMed:16186510,PubMed:21118995). Essential for the maturation of ubiquitin-containing autophagosomes and the clearance of ubiquitinatedprotein by autophagy (PubMed:20104022, PubMed:27753622). Acts as anegative regulator of type I interferon production by interactingwith DDX58/RIG-I: interaction takes place when DDX58/RIG-I isubiquitinated via 'Lys-63'-linked ubiquitin on its CARD domains,leading to recruit RNF125 and promote ubiquitination anddegradation of DDX58/RIG-I (PubMed:26471729). May play a role inthe ubiquitin-dependent sorting of membrane proteins to lysosomeswhere they undergo degradation (PubMed:21822278). May moreparticularly play a role in caveolins sorting in cells(PubMed:21822278, PubMed:23335559). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates theinsulin-like growth factor receptor signaling pathway(PubMed:26692333). {ECO:0000269|PubMed:15456787,ECO:0000269|PubMed:16168377, ECO:0000269|PubMed:16186510,ECO:0000269|PubMed:20104022, ECO:0000269|PubMed:21118995,ECO:0000269|PubMed:21822278, ECO:0000269|PubMed:22020440,ECO:0000269|PubMed:22120668, ECO:0000269|PubMed:22607976,ECO:0000269|PubMed:23042605, ECO:0000269|PubMed:23042607,ECO:0000269|PubMed:23335559, ECO:0000269|PubMed:26471729,ECO:0000269|PubMed:26565908, ECO:0000269|PubMed:26692333,ECO:0000269|PubMed:27753622}. |
| 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 VCP_C9orf131 |
| 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 VCP_C9orf131 |
| 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 |
| VCP | HLA-B, MCC, IKBKE, PPM1B, TRAF6, SGK1, WRAP73, AMFR, VIMP, ATXN3, NSFL1C, VCP, TOMM34, BRCA1, PSMC1, NFKBIA, CHEK2, UBXN6, INSIG1, FAF2, RNF103, NPLOC4, UFD1L, DERL1, SVIP, CD3D, SYVN1, VCPIP1, CFTR, HSP90AA1, HSPA4, HSPA8, STUB1, CASR, RNF19A, HERPUD1, DERL2, FBXO2, FBXO6, ITGB1, SRRM2, UBE4B, AVPR2, COPS5, WAC, HTT, UBC, PRKAA1, ANKZF1, TARDBP, HDAC5, HLA-DRB1, YOD1, UBXN2B, UBXN7, UBXN1, UBXN2A, ASPSCR1, FAF1, UBXN8, UBXN11, UBXN4, UBXN10, HIF1A, CUL1, CUL2, INSIG2, CACNA1C, ITPR1, HMGCR, MAPK8IP2, RPS6KA1, CRMP1, TOM1L1, L3MBTL1, MAP1LC3A, NDRG1, FCHSD2, ARRB2, NGLY1, SIRT7, UBQLN1, PLAA, AUP1, UBE2J1, RHBDL3, PTCRA, SCD, APOB, WRN, ISG15, CLN6, BAG6, UBL4A, SERPINA1, PPP1CC, PSMA2, TRIM13, APOA1, CUL3, CDK2, SLX4, SPRTN, CD4, GZMK, AKT1, SH2D2A, CLTA, NF1, PPP2R1A, PPP2CA, SFTPC, RAD23A, DNAJC10, DNAJB9, EEA1, LMAN1, PARK2, PACRG, TXNDC5, NASP, DSTN, FLNB, RBBP4, PRMT3, CCT5, NACA2, PSMA4, TXN2, HNF1A, CAV1, OS9, SMURF1, CCT2, PSMA1, HSPE1, YWHAB, YWHAE, YWHAH, YWHAG, YWHAQ, YWHAZ, TNKS1BP1, RPS13, RPS9, SLC3A2, PRKAG1, NMD3, RPL6, HSPA5, ACACA, ACTB, ARPC2, ARF6, ARFGAP2, GGA1, GGA2, ACTN1, ADD1, NAPA, ALS2, ANAPC7, ANKHD1, ANXA2, ANXA5, ANXA7, AP1B1, AP2A2, BAX, ATXN10, WRNIP1, BAG2, BZW2, BSG, BCLAF1, CTNNBL1, BID, BAIAP2L1, BRAT1, BCCIP, ARFGEF2, CAB39, CANX, PRKAR2A, CSNK2B, CAAP1, CASP7, COMT, CTNNA1, CTNND1, CNOT10, CNOT2, CNOT8, CDC42EP1, CDC42EP4, CDKN2AIP, CIDEC, RQCD1, CDC27, LYAR, TP53, CENPH, CEP55, ADCK3, CLASP1, COPE, STAG2, CCDC132, CCDC134, COIL, COMMD1, COMMD6, NCAPH, COG4, COG5, COPS3, COPS7A, CUL5, CUL7, CDK1, CDK2AP1, CDK4, DYNC1I2, DYNC1LI1, ZNF326, APPL1, DOCK7, ALDH18A1, DSP, LRIG1, TOP1, POLR2B, POLR3C, RPN1, MAP2K1, TTK, DUSP9, DNM3, TRIM25, ARIH1, ARIH2, HUWE1, KCMF1, MDM2, RNF2, TRIM21, UBR4, UBR5, MAPK3, MAPK1, EIF4A2, EIF5A, SUPT16H, FANCI, FERMT2, FHOD1, FKBP15, CCNB1, TUBGCP2, GTF3C1, GTF3C3, GTF3C5, GOLPH3L, GET4, GBF1, HAUS1, HS1BP3, HEATR1, HSPA1A, HSBP1, HSP90B2P, HSPB1, HSP90AB1, HNRNPA1, HNRNPH2, HNRNPH3, SAP18, H2AFJ, ST13, CDC37, HIP1R, INF2, IQCB1, KIAA1279, SPC24, LMNB2, KIAA1468, HELLS, KDM3B, MAP7D3, MDN1, MAPK13, UBE2M, NBEA, NCDN, DDIAS, NFKB2, NUMA1, NUP107, NUP205, NUP62, NUPL1, NME2, PIK3R2, PIK3C2B, PLEC, LMNA, TRIP12, RBM23, PDCD10, PDCD4, PDCD6, KIAA1524, DIAPH3, HOOK1, SON, SEC16A, TPM3P4, PKM, PDXDC1, RABGAP1, RAB3GAP1, RAB3GAP2, RAF1, G3BP2, RSU1, RAB10, RAB11B, RAB14, RAB7A, RFC3, RFC5, ARHGAP17, ARHGEF2, RNF126, RNF7, RBFOX2, PNO1, RRP12, SCFD1, ESPL1, SRSF11, SRSF3, CHEK1, ICK, MARK2, MTOR, PKN2, NEK2, PLK1, ULK3, WNK1, PPP2CB, PPP6C, SDCCAG3, SESN2, STAT1, SUMO1, SUMO2, SNX3, SPAST, SKP1, STMN1, SMARCC1, SMARCA5, TAF6L, TOM1, TAX1BP1, TBC1D10B, TBC1D9B, TCP1, CCT4, CCT7, CCT3, CCT8, CCT6A, TELO2, RIF1, TERF2, TTC4, TMED10, TMEM33, TNPO3, TP53BP1, TSG101, CSK, PTPN23, PTPN9, USP10, UBB, UBE2S, UBA5, C3orf17, VPS53, SEC22B, HDLBP, VIL1, VIM, VCL, WDR43, WDR82, WAPAL, ZFR, CDKN1B, CDKN1A, BAD, CASP9, FN1, VCAM1, TP63, PTPN22, NOS2, VCPKMT, ITGA4, ELAVL1, NPM1, ADRB2, VBP1, MSH4, PSMA7, WBSCR22, NUB1, PTGS2, BTRC, FBXW11, DIO2, PSMD4, ACTN4, PRMT5, DCAF11, LRBA, STAM2, CDC25A, ZFAND2B, TRA, HLA-A, BRSK2, RNF31, OTULIN, SHFM1, DGAT2, VAPA, VAPB, PEX19, PTPRO, PRKCD, DGCR6, SIK2, ATXN7, ATXN1, AR, ANKLE2, SLIRP, TUBB, DDX54, DGCR14, DNAJB11, EEF1A2, EPPK1, MRPS18B, RPL24, DAP3, RPL23, F7, FAM104A, FBF1, GBAS, GIGYF2, GLB1, GRIN2D, GRWD1, H2AFV, HNRNPH1, HSPD1, IQGAP1, IRS4, MRPS23, NIPSNAP1, NUP54, RPL13, PHKG2, PPFIBP1, PPP3CA, PRPF19, PRPF31, PRPF4, PSMC4, RPL18A, RPL22, RPL30, RPS11, RPS25, RPS3, RPS3A, RPS4X, RPS6, RPS8, RRBP1, RUVBL2, SPTAN1, SUPT6H, SYMPK, TIMM44, TMPRSS13, TPD52L2, TUBA1C, TUBB4B, DCAF7, FUS, DTNB, RPL9, RNF8, ATG5, UBOX5, WDYHV1, LNX1, CEP19, OBSL1, CCDC8, EZH2, SUZ12, CUL4A, PPT1, TMEM129, PSMA6, USP13, ESR1, ABCC1, ABCC3, CALR, CALU, HSP90B1, ISYNA1, NSF, PHB, PTGES3, RCN1, STIP1, TUBB2B, TUBB3, ATAD3A, ATAD3B, CLGN, HNRNPK, IPO4, KDSR, P4HB, PSMA3, RANBP2, RDX, RPN2, SLC25A3, TDP1, TKT, NTRK1, NCOA1, BLM, MUS81, GRB2, PIK3R3, ITGB4, PDK3, KIF20A, VPS18, SYF2, CHMP4B, PPP1R18, ZNF778, NFKB1, CRY2, MCM2, ERCC6, ERCC8, ANKRD13A, ANKRD13B, ANKRD13D, PSMC5, SENP3, HTRA2, IFT74, TTC26, IFT88, CLUAP1, PPAP2B, GABRA1, U2AF2, CDC73, CRBN, RHBDD1, POLR2A, UBL7, ATG9A, SLC17A2, FAM189B, CYLD, DLD, DNM1L, SOD1, G3BP1, ITPR3, FBXL2, HEY1, RPA2, YAP1, SH2D1A, IQGAP2, IQGAP3 | C9orf131 | DPPA4 |
| - 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 VCP_C9orf131 |
| 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 VCP_C9orf131 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | VCP | C1833662 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA | 8 | CTD_human;ORPHANET;UNIPROT |
| Hgene | VCP | C3151403 | AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | 8 | UNIPROT |
| Hgene | VCP | C4225244 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y | 2 | ORPHANET;UNIPROT |
| Hgene | VCP | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
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