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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: 6378

FusionGeneSummary for CDC42SE1_TNKS

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42SE1_TNKS
Fusion gene ID: 6378
HgeneTgene
Gene symbol

CDC42SE1

TNKS

Gene ID

56882

8658

Gene nameCDC42 small effector 1tankyrase
SynonymsSCIP1|SPEC1ARTD5|PARP-5a|PARP5A|PARPL|TIN1|TINF1|TNKS1|pART5
Cytomap

1q21.3

8p23.1

Type of geneprotein-codingprotein-coding
DescriptionCDC42 small effector protein 11300002M12RikCDC42-binding protein SCIP1signaling molecule SPEC1 betasmall effector of CDC42 protein 1small protein effector 1 of Cdc42tankyrase-1ADP-ribosyltransferase diphtheria toxin-like 5TANK1TNKS-1TRF1-interacting ankyrin-related ADP-ribose polymerase 1poly [ADP-ribose] polymerase 5Atankyrase Itankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
Modification date2018052320180523
UniProtAcc

Q9NRR8

O95271

Ensembl transtripts involved in fusion geneENST00000439374, ENST00000540998, 
ENST00000357235, ENST00000492796, 
ENST00000520408, ENST00000310430, 
ENST00000518281, ENST00000522110, 
ENST00000518027, 
Fusion gene scores* DoF score4 X 4 X 2=324 X 4 X 4=64
# samples 44
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDC42SE1 [Title/Abstract] AND TNKS [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
TgeneTNKS

GO:0000209

protein polyubiquitination

19759537|21478859

TgeneTNKS

GO:0006471

protein ADP-ribosylation

9822378|15133513|21270334

TgeneTNKS

GO:0018105

peptidyl-serine phosphorylation

17026964

TgeneTNKS

GO:0018107

peptidyl-threonine phosphorylation

17026964

TgeneTNKS

GO:0032212

positive regulation of telomere maintenance via telomerase

12782650|18221737

TgeneTNKS

GO:0045944

positive regulation of transcription by RNA polymerase II

19245366

TgeneTNKS

GO:0051973

positive regulation of telomerase activity

12782650

TgeneTNKS

GO:0070212

protein poly-ADP-ribosylation

9822378|16076287

TgeneTNKS

GO:0070213

protein auto-ADP-ribosylation

9822378|15133513|19759537|21478859

TgeneTNKS

GO:1904355

positive regulation of telomere capping

21531765

TgeneTNKS

GO:1904743

negative regulation of telomeric DNA binding

9822378


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
TCGARVBRCATCGA-A2-A1FW-01ACDC42SE1chr1

151031955

-TNKSchr8

9619026

+
* 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
5UTR-intronENST00000439374ENST00000520408CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000439374ENST00000310430CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000439374ENST00000518281CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000439374ENST00000522110CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000439374ENST00000518027CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000540998ENST00000520408CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000540998ENST00000310430CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000540998ENST00000518281CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000540998ENST00000522110CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000540998ENST00000518027CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000357235ENST00000520408CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000357235ENST00000310430CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000357235ENST00000518281CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000357235ENST00000522110CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000357235ENST00000518027CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000492796ENST00000520408CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000492796ENST00000310430CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000492796ENST00000518281CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000492796ENST00000522110CDC42SE1chr1

151031955

-TNKSchr8

9619026

+
5UTR-intronENST00000492796ENST00000518027CDC42SE1chr1

151031955

-TNKSchr8

9619026

+

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FusionProtFeatures for CDC42SE1_TNKS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDC42SE1

Q9NRR8

TNKS

O95271

Probably involved in the organization of the actincytoskeleton by acting downstream of CDC42, inducing actinfilament assembly. Alters CDC42-induced cell shape changes. Inactivated T-cells, may play a role in CDC42-mediated F-actinaccumulation at the immunological synapse. May play a role inearly contractile events in phagocytosis in macrophages.{ECO:0000269|PubMed:10816584, ECO:0000269|PubMed:15840583,ECO:0000269|PubMed:17045588}. Poly-ADP-ribosyltransferase involved in variousprocesses such as Wnt signaling pathway, telomere length andvesicle trafficking. Acts as an activator of the Wnt signalingpathway by mediating poly-ADP-ribosylation (PARsylation) of AXIN1and AXIN2, 2 key components of the beta-catenin destructioncomplex: poly-ADP-ribosylated target proteins are recognized byRNF146, which mediates their ubiquitination and subsequentdegradation. Also mediates PARsylation of BLZF1 and CASC3,followed by recruitment of RNF146 and subsequent ubiquitination.Mediates PARsylation of TERF1, thereby contributing to theregulation of telomere length. Involved in centrosome maturationduring prometaphase by mediating PARsylation of HEPACAM2/MIKI. Mayalso regulate vesicle trafficking and modulate the subcellulardistribution of SLC2A4/GLUT4-vesicles. May be involved in spindlepole assembly through PARsylation of NUMA1. Stimulates 26Sproteasome activity. {ECO:0000269|PubMed:10988299,ECO:0000269|PubMed:11739745, ECO:0000269|PubMed:16076287,ECO:0000269|PubMed:19759537, ECO:0000269|PubMed:21478859,ECO:0000269|PubMed:22864114, ECO:0000269|PubMed:23622245}.

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 CDC42SE1_TNKS


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 CDC42SE1_TNKS


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
CDC42SE1CDC42, RAC1, SNCA, ELAVL1, CBX7, ENO1, MOV10, NXF1, MIPEP, EIF5B, BTBD1TNKSFNBP1, POT1, TERF1, TNKS1BP1, NUMA1, MCL1, TNKS, LNPEP, BABAM1, FANCD2, TERF2, DISC1, SH3BP5, TNIK, GMDS, BLZF1, APC, SH3BP2, TINF2, RNF146, RAPGEF2, RTN2, CEP170, EPN3, SLC35A5, RNF166, PTEN, AXIN1, XPO1, KIF20A, FAM117B, SSSCA1, HIF1AN, SH3BP5L, LRP1, CELF5, MAPK8IP3, KLRG2, TMEM44, CHD1L, AP2M1, TRIM25, HEY1


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 CDC42SE1_TNKS


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 CDC42SE1_TNKS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDC42SE1C0023893Liver Cirrhosis, Experimental1CTD_human