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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: 1078

FusionGeneSummary for AGAP3_EXOSC9

check button Fusion gene summary
Fusion gene informationFusion gene name: AGAP3_EXOSC9
Fusion gene ID: 1078
HgeneTgene
Gene symbol

AGAP3

EXOSC9

Gene ID

116988

5393

Gene nameArfGAP with GTPase domain, ankyrin repeat and PH domain 3exosome component 9
SynonymsAGAP-3|CENTG3|CRAG|MRIP-1|cnt-g3PM/Scl-75|PMSCL1|RRP45|Rrp45p|p5|p6
Cytomap

7q36.1

4q27

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with GTPase, ANK repeat and PH domain-containing protein 3CRAM-associated GTPaseCRMP (collapsin response mediator protein) associatedMR1-interacting proteincentaurin-gamma-3exosome complex component RRP45P75 polymyositis-scleroderma overlap syndrome associated autoantigenPMSCL autoantigen, 75kDautoantigen PM/Scl 1exosome complex exonuclease RRP45polymyositis/scleroderma autoantigen 1, 75kDa
Modification date2018052320180523
UniProtAcc

Q96P47

Q06265

Ensembl transtripts involved in fusion geneENST00000463381, ENST00000473312, 
ENST00000479901, ENST00000397238, 
ENST00000476375, ENST00000335367, 
ENST00000243498, ENST00000509980, 
ENST00000379663, ENST00000512454, 
Fusion gene scores* DoF score10 X 4 X 7=2802 X 2 X 3=12
# samples 83
** MAII scorelog2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AGAP3 [Title/Abstract] AND EXOSC9 [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

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
TCGARVSARCTCGA-DX-A8BR-01AAGAP3chr7

150784159

+EXOSC9chr4

122722982

+
* 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-3CDSENST00000463381ENST00000243498AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3UTRENST00000463381ENST00000509980AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3UTRENST00000463381ENST00000379663AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3UTRENST00000463381ENST00000512454AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
Frame-shiftENST00000473312ENST00000243498AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
5CDS-3UTRENST00000473312ENST00000509980AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
5CDS-3UTRENST00000473312ENST00000379663AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
5CDS-3UTRENST00000473312ENST00000512454AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
Frame-shiftENST00000479901ENST00000243498AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
5CDS-3UTRENST00000479901ENST00000509980AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
5CDS-3UTRENST00000479901ENST00000379663AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
5CDS-3UTRENST00000479901ENST00000512454AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
Frame-shiftENST00000397238ENST00000243498AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
5CDS-3UTRENST00000397238ENST00000509980AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
5CDS-3UTRENST00000397238ENST00000379663AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
5CDS-3UTRENST00000397238ENST00000512454AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3CDSENST00000476375ENST00000243498AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3UTRENST00000476375ENST00000509980AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3UTRENST00000476375ENST00000379663AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3UTRENST00000476375ENST00000512454AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3CDSENST00000335367ENST00000243498AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3UTRENST00000335367ENST00000509980AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3UTRENST00000335367ENST00000379663AGAP3chr7

150784159

+EXOSC9chr4

122722982

+
intron-3UTRENST00000335367ENST00000512454AGAP3chr7

150784159

+EXOSC9chr4

122722982

+

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FusionProtFeatures for AGAP3_EXOSC9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AGAP3

Q96P47

EXOSC9

Q06265

GTPase-activating protein for the ADP ribosylationfactor family (Potential). GTPase which may be involved in thedegradation of expanded polyglutamine proteins through theubiquitin-proteasome pathway. {ECO:0000269|PubMed:16461359,ECO:0000305}. Non-catalytic component of the RNA exosome complex whichhas 3'->5' exoribonuclease activity and participates in amultitude of cellular RNA processing and degradation events. Inthe nucleus, the RNA exosome complex is involved in propermaturation of stable RNA species such as rRNA, snRNA and snoRNA,in the elimination of RNA processing by-products and non-coding'pervasive' transcripts, such as antisense RNA species andpromoter-upstream transcripts (PROMPTs), and of mRNAs withprocessing defects, thereby limiting or excluding their export tothe cytoplasm. The RNA exosome may be involved in Ig class switchrecombination (CSR) and/or Ig variable region somatichypermutation (SHM) by targeting AICDA deamination activity totranscribed dsDNA substrates. In the cytoplasm, the RNA exosomecomplex is involved in general mRNA turnover and specificallydegrades inherently unstable mRNAs containing AU-rich elements(AREs) within their 3' untranslated regions, and in RNAsurveillance pathways, preventing translation of aberrant mRNAs.It seems to be involved in degradation of histone mRNA. Thecatalytic inactive RNA exosome core complex of 9 subunits (Exo-9)is proposed to play a pivotal role in the binding and presentationof RNA for ribonucleolysis, and to serve as a scaffold for theassociation with catalytic subunits and accessory proteins orcomplexes. EXOSC9 binds to ARE-containing RNAs.{ECO:0000269|PubMed:11782436, ECO:0000269|PubMed:16455498,ECO:0000269|PubMed:16912217, ECO:0000269|PubMed:17545563}.

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 AGAP3_EXOSC9


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 AGAP3_EXOSC9


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
AGAP3YWHAB, FKBP6, MIER2, HSPB1, NTRK1, HERC2, FLCN, GPR156, ARHGAP22, LZTS2, KBTBD7, JPH4, TSC22D3, NUFIP2, TRIM25EXOSC9UBE2I, CUL3, COPS5, CAND1, CHMP4B, EXOSC4, DIS3, DIS3L, EXOSC3, EXOSC2, EXOSC5, EXOSC10, CSNK2A1, AICDA, MPG, ZDHHC17, OBSL1, SUMO2, EXOSC7, EXOSC8, EXOSC1, EXOSC6, PSMA2, PSMA6, PSMA7, STAG1, STAG2, MPHOSPH6, PSMA5, NTRK1, EEF1G, HP, RBM7, NOP56, TKT, TRIP12, C1D, HBS1L, ZNF106, SLC35E1, KIAA1804, DAB2IP, FAM111B, YBX1, USP37, LUM, RSRC1, SLIT2, LRRC47, NCL, FOXA1


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 AGAP3_EXOSC9


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 AGAP3_EXOSC9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource