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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 1123

FusionGeneSummary for AGO2_RAB27A

check button Fusion gene summary
Fusion gene informationFusion gene name: AGO2_RAB27A
Fusion gene ID: 1123
HgeneTgene
Gene symbol

AGO2

RAB27A

Gene ID

27161

5873

Gene nameargonaute 2, RISC catalytic componentRAB27A, member RAS oncogene family
SynonymsCASC7|EIF2C2|LINC00980|PPD|Q10GS2|HsT18676|RAB27|RAM
Cytomap

8q24.3

15q21.3

Type of geneprotein-codingprotein-coding
Descriptionprotein 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 RNAras-related protein Rab-27AGTP-binding protein Rammutant Ras-related protein Rab-27Arab-27
Modification date2018052320180527
UniProtAcc

Q9UKV8

P51159

Ensembl transtripts involved in fusion geneENST00000220592, ENST00000519980, 
ENST00000517293, 
ENST00000336787, 
ENST00000396307, ENST00000564609, 
ENST00000569493, ENST00000561545, 
Fusion gene scores* DoF score8 X 7 X 6=3368 X 7 X 5=280
# samples 88
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneAGO2

GO:0010501

RNA secondary structure unwinding

19966796

HgeneAGO2

GO:0031054

pre-miRNA processing

16424907|17671087|18178619|19966796

HgeneAGO2

GO:0035087

siRNA loading onto RISC involved in RNA interference

19966796

HgeneAGO2

GO:0035196

production of miRNAs involved in gene silencing by miRNA

19966796|23661684

HgeneAGO2

GO:0035278

miRNA mediated inhibition of translation

17671087|19801630

HgeneAGO2

GO:0035279

mRNA cleavage involved in gene silencing by miRNA

15260970|17524464

HgeneAGO2

GO:0035280

miRNA loading onto RISC involved in gene silencing by miRNA

18178619|19966796

HgeneAGO2

GO:0045766

positive regulation of angiogenesis

27208409

HgeneAGO2

GO:0045947

negative regulation of translational initiation

17524464|19801630

HgeneAGO2

GO:0090625

mRNA cleavage involved in gene silencing by siRNA

15260970

HgeneAGO2

GO:1905618

positive regulation of miRNA mediated inhibition of translation

23409027

TgeneRAB27A

GO:0006887

exocytosis

18812475


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BC078139AGO2chr8

141609842

+RAB27Achr15

55495683

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000220592ENST00000336787AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-3UTRENST00000220592ENST00000396307AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000220592ENST00000564609AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000220592ENST00000569493AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000220592ENST00000561545AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000519980ENST00000336787AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-3UTRENST00000519980ENST00000396307AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000519980ENST00000564609AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000519980ENST00000569493AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000519980ENST00000561545AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000517293ENST00000336787AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-3UTRENST00000517293ENST00000396307AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000517293ENST00000564609AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000517293ENST00000569493AGO2chr8

141609842

+RAB27Achr15

55495683

-
intron-intronENST00000517293ENST00000561545AGO2chr8

141609842

+RAB27Achr15

55495683

-

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FusionProtFeatures for AGO2_RAB27A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AGO2

Q9UKV8

RAB27A

P51159

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for AGO2_RAB27A


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for AGO2_RAB27A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for AGO2_RAB27A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAGO2C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneAGO2C0023470Myeloid Leukemia1CTD_human
HgeneAGO2C0236736Cocaine-Related Disorders1CTD_human
HgeneAGO2C0345967Malignant mesothelioma1CTD_human
TgeneRAB27AC1868679GRISCELLI SYNDROME, TYPE 21CTD_human;ORPHANET;UNIPROT