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Fusion gene ID: 30087 |
FusionGeneSummary for RAB8A_PLVAP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAB8A_PLVAP | Fusion gene ID: 30087 | Hgene | Tgene | Gene symbol | RAB8A | PLVAP | Gene ID | 4218 | 83483 |
| Gene name | RAB8A, member RAS oncogene family | plasmalemma vesicle associated protein | |
| Synonyms | MEL|RAB8 | FELS|PV-1|PV1|gp68 | |
| Cytomap | 19p13.11 | 19p13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ras-related protein Rab-8Amel transforming oncogene (RAB8 homolog)mel transforming oncogene (derived from cell line NK14)mel transforming oncogene (derived from cell line NK14)- RAB8 homologoncogene c-melras-associated protein RAB8 | plasmalemma vesicle-associated proteinfenestrated endothelial-linked structure proteinfenestrated-endothelial linked structure protein; PV-1 proteinplasmalemma vesicle protein 1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P61006 | Q9BX97 | |
| Ensembl transtripts involved in fusion gene | ENST00000300935, ENST00000588105, ENST00000586682, | ENST00000252590, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 1 X 2=4 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: RAB8A [Title/Abstract] AND PLVAP [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 | RAB8A | GO:0006904 | vesicle docking involved in exocytosis | 17574030 |
| Hgene | RAB8A | GO:0048210 | Golgi vesicle fusion to target membrane | 17574030 |
| Hgene | RAB8A | GO:0060271 | cilium assembly | 17574030 |
| Tgene | PLVAP | GO:0000165 | MAPK cascade | 15155804 |
| Tgene | PLVAP | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 19420356 |
| Tgene | PLVAP | GO:0070528 | protein kinase C signaling | 15155804 |
| 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 | ACC | TCGA-OR-A5K5-01A | RAB8A | chr19 | 16222835 | + | PLVAP | chr19 | 17477004 | - |
| * 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 | ENST00000300935 | ENST00000252590 | RAB8A | chr19 | 16222835 | + | PLVAP | chr19 | 17477004 | - |
| 3UTR-3CDS | ENST00000588105 | ENST00000252590 | RAB8A | chr19 | 16222835 | + | PLVAP | chr19 | 17477004 | - |
| Frame-shift | ENST00000586682 | ENST00000252590 | RAB8A | chr19 | 16222835 | + | PLVAP | chr19 | 17477004 | - |
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FusionProtFeatures for RAB8A_PLVAP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAB8A | PLVAP |
| The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different sets of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion. That Rab is involved in polarized vesiculartrafficking and neurotransmitter release. Together with RAB11A,RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBPpromotes transcytosis of PODXL to the apical membrane initiationsites (AMIS), apical surface formation and lumenogenesis(PubMed:20890297). Together with MYO5B and RAB11A participates inepithelial cell polarization (PubMed:21282656). Plays an importantrole in ciliogenesis (PubMed:21844891). Together with MICALL2, mayalso regulate adherens junction assembly (By similarity). May playa role in insulin-induced transport to the plasma membrane of theglucose transporter GLUT4 and therefore play a role in glucosehomeostasis (By similarity). Involved in autophagy(PubMed:27103069). {ECO:0000250|UniProtKB:P35280,ECO:0000250|UniProtKB:P55258, ECO:0000269|PubMed:20890297,ECO:0000269|PubMed:21282656, ECO:0000269|PubMed:21844891,ECO:0000269|PubMed:27103069}. | Involved in the formation of stomatal and fenestraldiaphragms of caveolae. May function in microvascularpermeability. {ECO:0000269|PubMed:15155804}. |
| 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 RAB8A_PLVAP |
| 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 RAB8A_PLVAP |
| 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 |
| RAB8A | RAB10, SYTL4, BAG6, GDI2, MAP4K2, OPTN, ELAVL1, TFRC, SNCA, RAB1B, RAB7A, RAB11B, NDUFA7, SCP2, RAB31, COX5A, IDH3G, RRBP1, UBL4A, MYO5B, MYO5C, EHD1, EHD3, STK4, RPA1, RPA2, RPA3, STAU1, SYTL1, TBC1D17, SHMT2, ODF2, OCRL, SRPRB, RAB3IL1, ANXA4, GDI1, HSD17B10, RAB5A, RAB5B, RAB5C, RAP1A, RAP1B, SDHB, MDM2, CEP97, CEP135, CNTRL, DCTN1, POC5, GOLT1B, EXOC6, RAB3B, STX3, VAMP3, DCDC5, CDC73, MTMR4, RAB8B, RAB1A, RPH3A, SLC1A1, NDUFA10, SAMM50, NDUFA5, CHCHD3, RAB3IP, RMND5B, STOM, EXOC5, MKLN1, RMND5A, ARMC8, RANBP10, WDR26, MAEA, YPEL5, RANBP9, GID8, EXOC8, BBS1, EHBP1L1, BIN1 | PLVAP | NRP1, FUT8, SMPD2, ZDHHC6, LMAN2L, OSBPL11, FLT4, EGFR, ASGR1 |
| - 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 RAB8A_PLVAP |
| 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 RAB8A_PLVAP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RAB8A | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
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