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Fusion gene ID: 1123 |
FusionGeneSummary for AGO2_RAB27A |
Fusion gene summary |
Fusion gene information | Fusion gene name: AGO2_RAB27A | Fusion gene ID: 1123 | Hgene | Tgene | Gene symbol | AGO2 | RAB27A | Gene ID | 27161 | 5873 |
Gene name | argonaute 2, RISC catalytic component | RAB27A, member RAS oncogene family | |
Synonyms | CASC7|EIF2C2|LINC00980|PPD|Q10 | GS2|HsT18676|RAB27|RAM | |
Cytomap | 8q24.3 | 15q21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | protein argonaute-2PAZ Piwi domain proteinargonaute RISC catalytic component 2cancer susceptibility candidate 7cancer susceptibility candidate 7 (non-protein coding)eukaryotic translation initiation factor 2C, 2long intergenic non-protein coding RNA | ras-related protein Rab-27AGTP-binding protein Rammutant Ras-related protein Rab-27Arab-27 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | Q9UKV8 | P51159 | |
Ensembl transtripts involved in fusion gene | ENST00000220592, ENST00000519980, ENST00000517293, | ENST00000336787, ENST00000396307, ENST00000564609, ENST00000569493, ENST00000561545, | |
Fusion gene scores | * DoF score | 8 X 7 X 6=336 | 8 X 7 X 5=280 |
# samples | 8 | 8 | |
** MAII score | log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AGO2 [Title/Abstract] AND RAB27A [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 | AGO2 | GO:0010501 | RNA secondary structure unwinding | 19966796 |
Hgene | AGO2 | GO:0031054 | pre-miRNA processing | 16424907|17671087|18178619|19966796 |
Hgene | AGO2 | GO:0035087 | siRNA loading onto RISC involved in RNA interference | 19966796 |
Hgene | AGO2 | GO:0035196 | production of miRNAs involved in gene silencing by miRNA | 19966796|23661684 |
Hgene | AGO2 | GO:0035278 | miRNA mediated inhibition of translation | 17671087|19801630 |
Hgene | AGO2 | GO:0035279 | mRNA cleavage involved in gene silencing by miRNA | 15260970|17524464 |
Hgene | AGO2 | GO:0035280 | miRNA loading onto RISC involved in gene silencing by miRNA | 18178619|19966796 |
Hgene | AGO2 | GO:0045766 | positive regulation of angiogenesis | 27208409 |
Hgene | AGO2 | GO:0045947 | negative regulation of translational initiation | 17524464|19801630 |
Hgene | AGO2 | GO:0090625 | mRNA cleavage involved in gene silencing by siRNA | 15260970 |
Hgene | AGO2 | GO:1905618 | positive regulation of miRNA mediated inhibition of translation | 23409027 |
Tgene | RAB27A | GO:0006887 | exocytosis | 18812475 |
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 |
ChiTaRS3.1 | BC078139 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
* 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 |
intron-intron | ENST00000220592 | ENST00000336787 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-3UTR | ENST00000220592 | ENST00000396307 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000220592 | ENST00000564609 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000220592 | ENST00000569493 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000220592 | ENST00000561545 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000519980 | ENST00000336787 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-3UTR | ENST00000519980 | ENST00000396307 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000519980 | ENST00000564609 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000519980 | ENST00000569493 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000519980 | ENST00000561545 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000517293 | ENST00000336787 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-3UTR | ENST00000517293 | ENST00000396307 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000517293 | ENST00000564609 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000517293 | ENST00000569493 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
intron-intron | ENST00000517293 | ENST00000561545 | AGO2 | chr8 | 141609842 | + | RAB27A | chr15 | 55495683 | - |
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FusionProtFeatures for AGO2_RAB27A |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
AGO2 | RAB27A |
Required for RNA-mediated gene silencing (RNAi) by theRNA-induced silencing complex (RISC). The 'minimal RISC' appearsto include AGO2 bound to a short guide RNA such as a microRNA(miRNA) or short interfering RNA (siRNA). These guide RNAs directRISC to complementary mRNAs that are targets for RISC-mediatedgene silencing. The precise mechanism of gene silencing depends onthe degree of complementarity between the miRNA or siRNA and itstarget. Binding of RISC to a perfectly complementary mRNAgenerally results in silencing due to endonucleolytic cleavage ofthe mRNA specifically by AGO2. Binding of RISC to a partiallycomplementary mRNA results in silencing through inhibition oftranslation, and this is independent of endonuclease activity. Mayinhibit translation initiation by binding to the 7-methylguanosinecap, thereby preventing the recruitment of the translationinitiation factor eIF4-E. May also inhibit translation initiationvia interaction with EIF6, which itself binds to the 60S ribosomalsubunit and prevents its association with the 40S ribosomalsubunit. The inhibition of translational initiation leads to theaccumulation of the affected mRNA in cytoplasmic processing bodies(P-bodies), where mRNA degradation may subsequently occur. In somecases RISC-mediated translational repression is also observed formiRNAs that perfectly match the 3' untranslated region (3'-UTR).Can also up-regulate the translation of specific mRNAs undercertain growth conditions. Binds to the AU element of the 3'-UTRof the TNF (TNF-alpha) mRNA and up-regulates translation underconditions of serum starvation. Also required for transcriptionalgene silencing (TGS), in which short RNAs known as antigene RNAsor agRNAs direct the transcriptional repression of complementarypromoter regions. {ECO:0000255|HAMAP-Rule:MF_03031,ECO:0000269|PubMed:15105377, ECO:0000269|PubMed:15260970,ECO:0000269|PubMed:15284456, ECO:0000269|PubMed:15337849,ECO:0000269|PubMed:15800637, ECO:0000269|PubMed:16081698,ECO:0000269|PubMed:16142218, ECO:0000269|PubMed:16271387,ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:16357216,ECO:0000269|PubMed:16756390, ECO:0000269|PubMed:16936728,ECO:0000269|PubMed:17382880, ECO:0000269|PubMed:17507929,ECO:0000269|PubMed:17524464, ECO:0000269|PubMed:17531811,ECO:0000269|PubMed:17932509, ECO:0000269|PubMed:18048652,ECO:0000269|PubMed:18178619, ECO:0000269|PubMed:18690212,ECO:0000269|PubMed:18771919, ECO:0000269|PubMed:19167051,ECO:0000269|PubMed:23746446}. | Plays a role in cytotoxic granule exocytosis inlymphocytes. Required for both granule maturation and granuledocking and priming at the immunologic synapse.{ECO:0000269|PubMed:18812475}. |
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 AGO2_RAB27A |
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 AGO2_RAB27A |
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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RelatedDrugs for AGO2_RAB27A |
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 AGO2_RAB27A |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | AGO2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | AGO2 | C0023470 | Myeloid Leukemia | 1 | CTD_human |
Hgene | AGO2 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
Hgene | AGO2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Tgene | RAB27A | C1868679 | GRISCELLI SYNDROME, TYPE 2 | 1 | CTD_human;ORPHANET;UNIPROT |