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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: 32434

FusionGeneSummary for RWDD3_CCDC18

check button Fusion gene summary
Fusion gene informationFusion gene name: RWDD3_CCDC18
Fusion gene ID: 32434
HgeneTgene
Gene symbol

RWDD3

CCDC18

Gene ID

25950

343099

Gene nameRWD domain containing 3coiled-coil domain containing 18
SynonymsRSUMENY-SAR-41
Cytomap

1p21.3

1p22.1

Type of geneprotein-codingprotein-coding
DescriptionRWD domain-containing protein 3RWD domain-containing sumoylation enhancerRWD-containing sumoylation enhancercoiled-coil domain-containing protein 18sarcoma antigen NY-SAR-24sarcoma antigen NY-SAR-41
Modification date2018052320180519
UniProtAcc

Q9Y3V2

Q5T9S5

Ensembl transtripts involved in fusion geneENST00000370202, ENST00000429514, 
ENST00000263893, ENST00000495272, 
ENST00000343253, ENST00000401026, 
ENST00000338949, ENST00000334652, 
ENST00000557479, ENST00000421014, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 8 X 5=240
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/240*10)=-1.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RWDD3 [Title/Abstract] AND CCDC18 [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
HgeneRWDD3

GO:0032088

negative regulation of NF-kappaB transcription factor activity

23469069

HgeneRWDD3

GO:0033235

positive regulation of protein sumoylation

23469069

HgeneRWDD3

GO:1902073

positive regulation of hypoxia-inducible factor-1alpha signaling pathway

23469069


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-A04U-01ARWDD3chr1

95705465

+CCDC18chr1

93711662

+
* 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-3CDSENST00000370202ENST00000343253RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-3CDSENST00000370202ENST00000401026RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-3CDSENST00000370202ENST00000338949RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-3UTRENST00000370202ENST00000334652RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-3UTRENST00000370202ENST00000557479RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-intronENST00000370202ENST00000421014RWDD3chr1

95705465

+CCDC18chr1

93711662

+
Frame-shiftENST00000429514ENST00000343253RWDD3chr1

95705465

+CCDC18chr1

93711662

+
Frame-shiftENST00000429514ENST00000401026RWDD3chr1

95705465

+CCDC18chr1

93711662

+
Frame-shiftENST00000429514ENST00000338949RWDD3chr1

95705465

+CCDC18chr1

93711662

+
5CDS-3UTRENST00000429514ENST00000334652RWDD3chr1

95705465

+CCDC18chr1

93711662

+
5CDS-3UTRENST00000429514ENST00000557479RWDD3chr1

95705465

+CCDC18chr1

93711662

+
5CDS-intronENST00000429514ENST00000421014RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-3CDSENST00000263893ENST00000343253RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-3CDSENST00000263893ENST00000401026RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-3CDSENST00000263893ENST00000338949RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-3UTRENST00000263893ENST00000334652RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-3UTRENST00000263893ENST00000557479RWDD3chr1

95705465

+CCDC18chr1

93711662

+
intron-intronENST00000263893ENST00000421014RWDD3chr1

95705465

+CCDC18chr1

93711662

+
3UTR-3CDSENST00000495272ENST00000343253RWDD3chr1

95705465

+CCDC18chr1

93711662

+
3UTR-3CDSENST00000495272ENST00000401026RWDD3chr1

95705465

+CCDC18chr1

93711662

+
3UTR-3CDSENST00000495272ENST00000338949RWDD3chr1

95705465

+CCDC18chr1

93711662

+
3UTR-3UTRENST00000495272ENST00000334652RWDD3chr1

95705465

+CCDC18chr1

93711662

+
3UTR-3UTRENST00000495272ENST00000557479RWDD3chr1

95705465

+CCDC18chr1

93711662

+
3UTR-intronENST00000495272ENST00000421014RWDD3chr1

95705465

+CCDC18chr1

93711662

+

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FusionProtFeatures for RWDD3_CCDC18


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RWDD3

Q9Y3V2

CCDC18

Q5T9S5

Enhancer of SUMO conjugation. Via its interaction withUBE2I/UBC9, increases SUMO conjugation to proteins by promotingthe binding of E1 and E2 enzymes, thioester linkage between SUMOand UBE2I/UBC9 and transfer of SUMO to specific target proteinswhich include HIF1A, PIAS, NFKBIA, NR3C1 and TOP1. Isoform 1 andisoform 2 positively regulate the NF-kappa-B signaling pathway byenhancing the sumoylation of NF-kappa-B inhibitor alpha (NFKBIA),promoting its stabilization which consequently leads to anincreased inhibition of NF-kappa-B transcriptional activity.Isoform 1 and isoform 2 negatively regulate the hypoxia-induciblefactor-1 alpha (HIF1A) signaling pathway by increasing thesumoylation of HIF1A, promoting its stabilization, transcriptionalactivity and the expression of its target gene VEGFA duringhypoxia. Isoform 2 promotes the sumoylation and transcriptionalactivity of the glucocorticoid receptor NR3C1 and enhances theinteraction of SUMO1 and NR3C1 with UBE2I/UBC9. Has no effect onubiquitination. {ECO:0000269|PubMed:17956732,ECO:0000269|PubMed:22009797, ECO:0000269|PubMed:23469069,ECO:0000269|PubMed:23508108}.

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 RWDD3_CCDC18


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 RWDD3_CCDC18


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
RWDD3SUMO1, UBE2I, NFKBIA, HIF1A, NXF1, VHLCCDC18COG3, MED4, OFD1, PCM1, CEP128, CEP135, CEP63, ODF2, POC5, DYNLL1, FGFR1OP, CCDC14, KIF7, EYA2, TPTE2, EMILIN1, FAM167A, CDR2, PRPF19, NDEL1, GALK2


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 RWDD3_CCDC18


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 RWDD3_CCDC18


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