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Fusion gene ID: 32434 |
FusionGeneSummary for RWDD3_CCDC18 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RWDD3_CCDC18 | Fusion gene ID: 32434 | Hgene | Tgene | Gene symbol | RWDD3 | CCDC18 | Gene ID | 25950 | 343099 |
Gene name | RWD domain containing 3 | coiled-coil domain containing 18 | |
Synonyms | RSUME | NY-SAR-41 | |
Cytomap | 1p21.3 | 1p22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | RWD domain-containing protein 3RWD domain-containing sumoylation enhancerRWD-containing sumoylation enhancer | coiled-coil domain-containing protein 18sarcoma antigen NY-SAR-24sarcoma antigen NY-SAR-41 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9Y3V2 | Q5T9S5 | |
Ensembl transtripts involved in fusion gene | ENST00000370202, ENST00000429514, ENST00000263893, ENST00000495272, | ENST00000343253, ENST00000401026, ENST00000338949, ENST00000334652, ENST00000557479, ENST00000421014, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 8 X 5=240 |
# samples | 1 | 7 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
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 |
Hgene | RWDD3 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 23469069 |
Hgene | RWDD3 | GO:0033235 | positive regulation of protein sumoylation | 23469069 |
Hgene | RWDD3 | GO:1902073 | positive regulation of hypoxia-inducible factor-1alpha signaling pathway | 23469069 |
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 | BRCA | TCGA-A2-A04U-01A | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
* 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 | ENST00000370202 | ENST00000343253 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-3CDS | ENST00000370202 | ENST00000401026 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-3CDS | ENST00000370202 | ENST00000338949 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-3UTR | ENST00000370202 | ENST00000334652 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-3UTR | ENST00000370202 | ENST00000557479 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-intron | ENST00000370202 | ENST00000421014 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
Frame-shift | ENST00000429514 | ENST00000343253 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
Frame-shift | ENST00000429514 | ENST00000401026 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
Frame-shift | ENST00000429514 | ENST00000338949 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
5CDS-3UTR | ENST00000429514 | ENST00000334652 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
5CDS-3UTR | ENST00000429514 | ENST00000557479 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
5CDS-intron | ENST00000429514 | ENST00000421014 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-3CDS | ENST00000263893 | ENST00000343253 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-3CDS | ENST00000263893 | ENST00000401026 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-3CDS | ENST00000263893 | ENST00000338949 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-3UTR | ENST00000263893 | ENST00000334652 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-3UTR | ENST00000263893 | ENST00000557479 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
intron-intron | ENST00000263893 | ENST00000421014 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
3UTR-3CDS | ENST00000495272 | ENST00000343253 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
3UTR-3CDS | ENST00000495272 | ENST00000401026 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
3UTR-3CDS | ENST00000495272 | ENST00000338949 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
3UTR-3UTR | ENST00000495272 | ENST00000334652 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
3UTR-3UTR | ENST00000495272 | ENST00000557479 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
3UTR-intron | ENST00000495272 | ENST00000421014 | RWDD3 | chr1 | 95705465 | + | CCDC18 | chr1 | 93711662 | + |
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FusionProtFeatures for RWDD3_CCDC18 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RWDD3 | CCDC18 |
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}. |
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 RWDD3_CCDC18 |
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 |
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 |
RWDD3 | SUMO1, UBE2I, NFKBIA, HIF1A, NXF1, VHL | CCDC18 | COG3, MED4, OFD1, PCM1, CEP128, CEP135, CEP63, ODF2, POC5, DYNLL1, FGFR1OP, CCDC14, KIF7, EYA2, TPTE2, EMILIN1, FAM167A, CDR2, PRPF19, NDEL1, GALK2 |
- 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 RWDD3_CCDC18 |
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 RWDD3_CCDC18 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |