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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: 8788

FusionGeneSummary for CTDSPL_WRN

check button Fusion gene summary
Fusion gene informationFusion gene name: CTDSPL_WRN
Fusion gene ID: 8788
HgeneTgene
Gene symbol

CTDSPL

WRN

Gene ID

10217

7486

Gene nameCTD small phosphatase likeWerner syndrome RecQ like helicase
SynonymsC3orf8|HYA22|PSR1|RBSP3|SCP3RECQ3|RECQL2|RECQL3
Cytomap

3p22.2

8p12

Type of geneprotein-codingprotein-coding
DescriptionCTD small phosphatase-like proteinCTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-likeCTDSP-likeNIF-like proteinNLI-interacting factor 1RB protein serine phosphatase from chromosome 3carboxy-terminal domain RNA polyWerner syndrome ATP-dependent helicaseDNA helicase, RecQ-like type 3Werner syndrome, RecQ helicase-likeexonuclease WRNrecQ protein-like 2
Modification date2018052320180523
UniProtAcc

O15194

Q14191

Ensembl transtripts involved in fusion geneENST00000443503, ENST00000273179, 
ENST00000310189, 
ENST00000298139, 
Fusion gene scores* DoF score5 X 4 X 5=1006 X 5 X 5=150
# samples 56
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CTDSPL [Title/Abstract] AND WRN [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
TgeneWRN

GO:0000731

DNA synthesis involved in DNA repair

17563354

TgeneWRN

GO:0006259

DNA metabolic process

16622405

TgeneWRN

GO:0006284

base-excision repair

17611195

TgeneWRN

GO:0006974

cellular response to DNA damage stimulus

18203716

TgeneWRN

GO:0006979

response to oxidative stress

17611195

TgeneWRN

GO:0009267

cellular response to starvation

11420665

TgeneWRN

GO:0010225

response to UV-C

17563354

TgeneWRN

GO:0031297

replication fork processing

17115688

TgeneWRN

GO:0032508

DNA duplex unwinding

11735402|26420422

TgeneWRN

GO:0044806

G-quadruplex DNA unwinding

11735402

TgeneWRN

GO:0051345

positive regulation of hydrolase activity

17611195

TgeneWRN

GO:0061820

telomeric D-loop disassembly

15200954|19734539|26420422

TgeneWRN

GO:0071480

cellular response to gamma radiation

21639834

TgeneWRN

GO:0098530

positive regulation of strand invasion

26420422

TgeneWRN

GO:1902570

protein localization to nucleolus

11420665


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
TCGARVBLCATCGA-DK-A3X2-01ACTDSPLchr3

37903769

+WRNchr8

30954284

+
* 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
Frame-shitENST00000443503ENST00000298139CTDSPLchr3

37903769

+WRNchr8

30954284

+
Frame-shitENST00000273179ENST00000298139CTDSPLchr3

37903769

+WRNchr8

30954284

+
intron-3CDSENST00000310189ENST00000298139CTDSPLchr3

37903769

+WRNchr8

30954284

+

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FusionProtFeatures for CTDSPL_WRN


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

O15194

WRN

Q14191

Recruited by REST to neuronal genes that contain RE-1elements, leading to neuronal gene silencing in non-neuronal cells(By similarity). Preferentially catalyzes the dephosphorylation of'Ser-5' within the tandem 7 residue repeats in the C-terminaldomain (CTD) of the largest RNA polymerase II subunit POLR2A.Negatively regulates RNA polymerase II transcription, possibly bycontrolling the transition from initiation/capping to processivetranscript elongation. {ECO:0000250, ECO:0000269|PubMed:12721286}. Multifunctional enzyme that has both magnesium and ATP-dependent DNA-helicase activity and 3'->5' exonuclease activitytowards double-stranded DNA with a 5'-overhang. Has no nucleaseactivity towards single-stranded DNA or blunt-ended double-stranded DNA. Binds preferentially to DNA substrates containingalternate secondary structures, such as replication forks andHolliday junctions. May play an important role in the dissociationof joint DNA molecules that can arise as products of homologousrecombination, at stalled replication forks or during DNA repair.Alleviates stalling of DNA polymerases at the site of DNA lesions.Important for genomic integrity. Plays a role in the formation ofDNA replication focal centers; stably associates with focielements generating binding sites for RP-A (By similarity). Playsa role in double-strand break repair after gamma-irradiation.{ECO:0000250, ECO:0000269|PubMed:11863428,ECO:0000269|PubMed:17563354, ECO:0000269|PubMed:18596042,ECO:0000269|PubMed:19283071, ECO:0000269|PubMed:19652551,ECO:0000269|PubMed:21639834}.

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 CTDSPL_WRN


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 CTDSPL_WRN


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
CTDSPLSNAI1, ELAVL1, CTDSP1, CDCA3, TBC1D4, ARVCF, CADM1, RFTN1, PACS1, DAB2IP, ARHGAP39, CD44, ABCC1, ATP2B4, NOTCH1, PVRL2, MCAM, ITGA5, USP31, C2CD4C, TBC1D10B, TIAM1, ITGA6, KIRREL, SPTBN2, PPP1R9A, CDC42EP1, TMEM2, CACHD1, MICAL3, ANK3, FMN2, ROBO1, MPZL1, ADD2, PALM2, NUMBL, AKAP5, SLC30A1, KIAA1549, CTNNA1, FLVCR1, SLC29A1, CXADR, FAM171B, TTC7B, PCDH7, MARVELD2, NF2, SLC39A6, BASP1, CNNM3, SLC39A10, CLCN7, GPRIN3, ESYT2, FAM171A1, LPHN2, RELL1, SLC12A7, NUMB, CEP89, SLC12A2, CTNND1, DTNA, CCDC8, SLC38A1, TJP1, ZDHHC5, PALM, EGFR, PTPN14, TULP3, FAM129B, GPRIN1, HSPA12A, ATP2B1, EFR3B, SLC3A2, ARL13B, PSD3, MBP, FGFR2WRNMDC1, TERF2, BLM, ATM, ATR, PRKDC, FEN1, PCNA, WRNIP1, POLR1C, XRCC5, XRCC6, TP53, WDR48, CHAF1A, POLB, POT1, H2AFX, NBN, DHX9, RAD51, RAD52, ATRX, RAD54B, SIRT1, WRN, PARP1, VCP, CDKN2A, CDC5L, PML, SUMO1, SUMO2, RPA1, RPA2, RPA3, CREBBP, KIAA0930, SKAP1, NTRK1, MUS81, PTTG1, TINF2, POLK, POLL, SUPT16H, ARL3, CHEK2, CHEK1, WEE1, TUBA1A


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 CTDSPL_WRN


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 CTDSPL_WRN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneWRNC0043119Werner Syndrome3CTD_human;ORPHANET;UNIPROT
TgeneWRNC0231341Premature aging syndrome1CTD_human