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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: 9350

FusionGeneSummary for DCAF12_EXOSC2

check button Fusion gene summary
Fusion gene informationFusion gene name: DCAF12_EXOSC2
Fusion gene ID: 9350
HgeneTgene
Gene symbol

DCAF12

EXOSC2

Gene ID

25853

23404

Gene nameDDB1 and CUL4 associated factor 12exosome component 2
SynonymsCT102|KIAA1892|TCC52|WDR40ARRP4|Rrp4p|SHRF|hRrp4p|p7
Cytomap

9p13.3

9q34.12

Type of geneprotein-codingprotein-coding
DescriptionDDB1- and CUL4-associated factor 12WD repeat domain 40AWD repeat-containing protein 40Acancer/testis antigen 102centrosome-related protein TCC52testis cancer centrosome-related proteinexosome complex component RRP4exosome complex exonuclease RRP4homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)homolog of yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonucleaseribosomal RNA-processing protein 4
Modification date2018052320180523
UniProtAcc

Q5T6F0

Q13868

Ensembl transtripts involved in fusion geneENST00000361264, ENST00000463286, 
ENST00000372358, ENST00000546165, 
ENST00000372352, ENST00000372351, 
ENST00000467138, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DCAF12 [Title/Abstract] AND EXOSC2 [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
TCGALDBLCATCGA-4Z-AA7S-01ADCAF12chr9

34087998

-EXOSC2chr9

133574716

+
* 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-3CDSENST00000361264ENST00000372358DCAF12chr9

34087998

-EXOSC2chr9

133574716

+
intron-3CDSENST00000361264ENST00000546165DCAF12chr9

34087998

-EXOSC2chr9

133574716

+
intron-3CDSENST00000361264ENST00000372352DCAF12chr9

34087998

-EXOSC2chr9

133574716

+
intron-3CDSENST00000361264ENST00000372351DCAF12chr9

34087998

-EXOSC2chr9

133574716

+
intron-intronENST00000361264ENST00000467138DCAF12chr9

34087998

-EXOSC2chr9

133574716

+
intron-3CDSENST00000463286ENST00000372358DCAF12chr9

34087998

-EXOSC2chr9

133574716

+
intron-3CDSENST00000463286ENST00000546165DCAF12chr9

34087998

-EXOSC2chr9

133574716

+
intron-3CDSENST00000463286ENST00000372352DCAF12chr9

34087998

-EXOSC2chr9

133574716

+
intron-3CDSENST00000463286ENST00000372351DCAF12chr9

34087998

-EXOSC2chr9

133574716

+
intron-intronENST00000463286ENST00000467138DCAF12chr9

34087998

-EXOSC2chr9

133574716

+

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FusionProtFeatures for DCAF12_EXOSC2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DCAF12

Q5T6F0

EXOSC2

Q13868

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. EXOSC2 as peripheral part of the Exo-9 complexstabilizes the hexameric ring of RNase PH-domain subunits throughcontacts with EXOSC4 and EXOSC7. {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 DCAF12_EXOSC2


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 DCAF12_EXOSC2


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
DCAF12DDB1, CUL4A, ELAVL1, COPS5, COPS6, DDA1, CCT7, CCT3, PFDN2, TUBA3C, MCMBP, GOLIM4, XIAP, BIRC2, BIRC6, YY1AP1, ZZEF1, MOV10EXOSC2KHSRP, UPF1, UPF2, UPF3A, EXOSC4, EXOSC7, MEPCE, UBC, HDGF, CAND1, DIS3, DIS3L, EXOSC3, EXOSC5, EXOSC9, DEK, RAN, BARD1, MDC1, METTL22, AICDA, ZNF408, RNF8, GALNT13, ST6GALNAC1, MRPL48, GPX1, NXF1, EXOSC8, COMMD4, EXOSC10, EXOSC1, KPNB1, MPHOSPH6, PSMA2, STAG2, EXOSC6, IFI16, NCL, PEX1, PRRC2A, PRC1, WDR46, ORC1, FBXL4, NT5DC3, ASXL2, PLXNA3, MALSU1, PTGR2, ZFP36L1, C1D, LUM, RSRC1, SLIT2, LRRC47, DHPS, 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 DCAF12_EXOSC2


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 DCAF12_EXOSC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEXOSC2C0023903Liver neoplasms1CTD_human
TgeneEXOSC2C0032927Precancerous Conditions1CTD_human