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Fusion gene ID: 1078 |
FusionGeneSummary for AGAP3_EXOSC9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AGAP3_EXOSC9 | Fusion gene ID: 1078 | Hgene | Tgene | Gene symbol | AGAP3 | EXOSC9 | Gene ID | 116988 | 5393 |
| Gene name | ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 | exosome component 9 | |
| Synonyms | AGAP-3|CENTG3|CRAG|MRIP-1|cnt-g3 | PM/Scl-75|PMSCL1|RRP45|Rrp45p|p5|p6 | |
| Cytomap | 7q36.1 | 4q27 | |
| Type of gene | protein-coding | protein-coding | |
| Description | arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3CRAM-associated GTPaseCRMP (collapsin response mediator protein) associatedMR1-interacting proteincentaurin-gamma-3 | exosome complex component RRP45P75 polymyositis-scleroderma overlap syndrome associated autoantigenPMSCL autoantigen, 75kDautoantigen PM/Scl 1exosome complex exonuclease RRP45polymyositis/scleroderma autoantigen 1, 75kDa | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96P47 | Q06265 | |
| Ensembl transtripts involved in fusion gene | ENST00000463381, ENST00000473312, ENST00000479901, ENST00000397238, ENST00000476375, ENST00000335367, | ENST00000243498, ENST00000509980, ENST00000379663, ENST00000512454, | |
| Fusion gene scores | * DoF score | 10 X 4 X 7=280 | 2 X 2 X 3=12 |
| # samples | 8 | 3 | |
| ** MAII score | log2(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) |
| 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 |
| 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 | SARC | TCGA-DX-A8BR-01A | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| * 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-3CDS | ENST00000463381 | ENST00000243498 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3UTR | ENST00000463381 | ENST00000509980 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3UTR | ENST00000463381 | ENST00000379663 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3UTR | ENST00000463381 | ENST00000512454 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| Frame-shift | ENST00000473312 | ENST00000243498 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| 5CDS-3UTR | ENST00000473312 | ENST00000509980 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| 5CDS-3UTR | ENST00000473312 | ENST00000379663 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| 5CDS-3UTR | ENST00000473312 | ENST00000512454 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| Frame-shift | ENST00000479901 | ENST00000243498 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| 5CDS-3UTR | ENST00000479901 | ENST00000509980 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| 5CDS-3UTR | ENST00000479901 | ENST00000379663 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| 5CDS-3UTR | ENST00000479901 | ENST00000512454 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| Frame-shift | ENST00000397238 | ENST00000243498 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| 5CDS-3UTR | ENST00000397238 | ENST00000509980 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| 5CDS-3UTR | ENST00000397238 | ENST00000379663 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| 5CDS-3UTR | ENST00000397238 | ENST00000512454 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3CDS | ENST00000476375 | ENST00000243498 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3UTR | ENST00000476375 | ENST00000509980 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3UTR | ENST00000476375 | ENST00000379663 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3UTR | ENST00000476375 | ENST00000512454 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3CDS | ENST00000335367 | ENST00000243498 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3UTR | ENST00000335367 | ENST00000509980 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3UTR | ENST00000335367 | ENST00000379663 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
| intron-3UTR | ENST00000335367 | ENST00000512454 | AGAP3 | chr7 | 150784159 | + | EXOSC9 | chr4 | 122722982 | + |
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FusionProtFeatures for AGAP3_EXOSC9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AGAP3 | EXOSC9 |
| 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}. |
| 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 AGAP3_EXOSC9 |
| 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 |
| 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 |
| AGAP3 | YWHAB, FKBP6, MIER2, HSPB1, NTRK1, HERC2, FLCN, GPR156, ARHGAP22, LZTS2, KBTBD7, JPH4, TSC22D3, NUFIP2, TRIM25 | EXOSC9 | UBE2I, 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 |
| - 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 AGAP3_EXOSC9 |
| 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 AGAP3_EXOSC9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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