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Fusion gene ID: 30063 |
FusionGeneSummary for RAB6A_RP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAB6A_RP1 | Fusion gene ID: 30063 | Hgene | Tgene | Gene symbol | RAB6A | RP1 | Gene ID | 5870 | 10982 |
| Gene name | RAB6A, member RAS oncogene family | microtubule associated protein RP/EB family member 2 | |
| Synonyms | RAB6 | CSCSC2|EB1|EB2|RP1 | |
| Cytomap | 11q13.4 | 18q12.1-q12.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ras-related protein Rab-6ARAB6, member RAS oncogene familyRab GTPase | microtubule-associated protein RP/EB family member 2APC-binding protein EB1APC-binding protein EB2T-cell activation protein, EB1 familyend-binding protein 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P20340 | P56715 | |
| Ensembl transtripts involved in fusion gene | ENST00000310653, ENST00000336083, ENST00000536566, ENST00000541588, | ENST00000220676, | |
| Fusion gene scores | * DoF score | 10 X 5 X 8=400 | 5 X 4 X 5=100 |
| # samples | 10 | 5 | |
| ** MAII score | log2(10/400*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RAB6A [Title/Abstract] AND RP1 [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 | RAB6A | GO:0018125 | peptidyl-cysteine methylation | 11121396 |
| Hgene | RAB6A | GO:0034067 | protein localization to Golgi apparatus | 12447383|18243103 |
| 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 | LD | SKCM | TCGA-ER-A19T-01A | RAB6A | chr11 | 73471611 | - | RP1 | chr8 | 55769588 | + |
| * 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 |
| 5CDS-intron | ENST00000310653 | ENST00000220676 | RAB6A | chr11 | 73471611 | - | RP1 | chr8 | 55769588 | + |
| 5CDS-intron | ENST00000336083 | ENST00000220676 | RAB6A | chr11 | 73471611 | - | RP1 | chr8 | 55769588 | + |
| intron-intron | ENST00000536566 | ENST00000220676 | RAB6A | chr11 | 73471611 | - | RP1 | chr8 | 55769588 | + |
| 5CDS-intron | ENST00000541588 | ENST00000220676 | RAB6A | chr11 | 73471611 | - | RP1 | chr8 | 55769588 | + |
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FusionProtFeatures for RAB6A_RP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAB6A | RP1 |
| Protein transport. Regulator of membrane traffic fromthe Golgi apparatus towards the endoplasmic reticulum (ER). Has alow GTPase activity. Involved in COPI-independent retrogradetransport from the Golgi to the ER (PubMed:25962623).{ECO:0000269|PubMed:25962623}. | Microtubule-associated protein regulating the stabilityand length of the microtubule-based axoneme of photoreceptors.Required for the differentiation of photoreceptor cells, it playsa role in the organization of the outer segment of rod and conephotoreceptors ensuring the correct orientation and higher-orderstacking of outer segment disks along the photoreceptor axoneme(By similarity). {ECO:0000250}. |
| 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 RAB6A_RP1 |
| 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 RAB6A_RP1 |
| 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 |
| RAB6A | PMM1, GOLGA1, BICD1, DCTN1, ERC1, RAB7A, CHM, CHML, GOLGA2, SYTL5, KIF20A, BICD2, RABGAP1, ELAVL1, RPA3, RPA2, RPA1, FKBP2, OCRL, SRPRB, HAX1, DNAAF2, TGFBR2, TREML2, RNF26, TMEM52B, RAB11B, ARF1, ETFA, RAB1A, RAB1B, RAB2A, OFD1, NPHP1, RPGRIP1L, GDI1, TSSC1, ZNF131, RAB6B, TRIM25 | RP1 |
| - 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 RAB6A_RP1 |
| 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 RAB6A_RP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RP1 | C0220701 | RETINITIS PIGMENTOSA 1 | 5 | CTD_human;UNIPROT |
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