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Fusion gene ID: 40388 |
FusionGeneSummary for UBE2D2_C9orf3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: UBE2D2_C9orf3 | Fusion gene ID: 40388 | Hgene | Tgene | Gene symbol | UBE2D2 | C9orf3 | Gene ID | 7322 | 84909 |
Gene name | ubiquitin conjugating enzyme E2 D2 | chromosome 9 open reading frame 3 | |
Synonyms | E2(17)KB2|PUBC1|UBC4|UBC4/5|UBCH4|UBCH5B | AOPEP|AP-O|APO|C90RF3|ONPEP | |
Cytomap | 5q31.2 | 9q22.32 | |
Type of gene | protein-coding | protein-coding | |
Description | ubiquitin-conjugating enzyme E2 D2(E3-independent) E2 ubiquitin-conjugating enzyme D2E2 ubiquitin-conjugating enzyme D2p53-regulated ubiquitin-conjugating enzyme 1ubiquitin carrier protein D2ubiquitin conjugating enzyme E2D 2ubiquitin-conjugating en | aminopeptidase O | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P62837 | ||
Ensembl transtripts involved in fusion gene | ENST00000511725, ENST00000253815, ENST00000398733, ENST00000505548, | ENST00000277198, ENST00000297979, ENST00000375315, ENST00000395357, ENST00000425634, ENST00000433691, ENST00000473778, | |
Fusion gene scores | * DoF score | 9 X 6 X 8=432 | 8 X 4 X 7=224 |
# samples | 10 | 8 | |
** MAII score | log2(10/432*10)=-2.11103131238874 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: UBE2D2 [Title/Abstract] AND C9orf3 [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 | UBE2D2 | GO:0000209 | protein polyubiquitination | 15247280 |
Hgene | UBE2D2 | GO:0016567 | protein ubiquitination | 9990509|14593114 |
Hgene | UBE2D2 | GO:0051865 | protein autoubiquitination | 21068390 |
Hgene | UBE2D2 | GO:0070936 | protein K48-linked ubiquitination | 20061386 |
Tgene | C9orf3 | GO:0006508 | proteolysis | 15687497 |
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 | LD | CESC | TCGA-DS-A0VL-01A | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
* 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 |
5UTR-intron | ENST00000511725 | ENST00000277198 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
5UTR-3UTR | ENST00000511725 | ENST00000297979 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
5UTR-3UTR | ENST00000511725 | ENST00000375315 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
5UTR-intron | ENST00000511725 | ENST00000395357 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
5UTR-intron | ENST00000511725 | ENST00000425634 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
5UTR-intron | ENST00000511725 | ENST00000433691 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
5UTR-intron | ENST00000511725 | ENST00000473778 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000253815 | ENST00000277198 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-3UTR | ENST00000253815 | ENST00000297979 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-3UTR | ENST00000253815 | ENST00000375315 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000253815 | ENST00000395357 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000253815 | ENST00000425634 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000253815 | ENST00000433691 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000253815 | ENST00000473778 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000398733 | ENST00000277198 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-3UTR | ENST00000398733 | ENST00000297979 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-3UTR | ENST00000398733 | ENST00000375315 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000398733 | ENST00000395357 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000398733 | ENST00000425634 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000398733 | ENST00000433691 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000398733 | ENST00000473778 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000505548 | ENST00000277198 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-3UTR | ENST00000505548 | ENST00000297979 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-3UTR | ENST00000505548 | ENST00000375315 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000505548 | ENST00000395357 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000505548 | ENST00000425634 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000505548 | ENST00000433691 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
intron-intron | ENST00000505548 | ENST00000473778 | UBE2D2 | chr5 | 138906197 | + | C9orf3 | chr9 | 97848964 | + |
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FusionProtFeatures for UBE2D2_C9orf3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
UBE2D2 | C9orf3 |
Accepts ubiquitin from the E1 complex and catalyzes itscovalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Mediates the selective degradationof short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination ofPEX5 and autoubiquitination of STUB1 and TRAF6. Involved in thesignal-induced conjugation and subsequent degradation of NFKBIA,FBXW2-mediated GCM1 ubiquitination and degradation, MDM2-dependentdegradation of p53/TP53 and the activation of MAVS in themitochondria by DDX58/RIG-I in response to viral infection.Essential for viral activation of IRF3.{ECO:0000269|PubMed:10329681, ECO:0000269|PubMed:15280377,ECO:0000269|PubMed:18042044, ECO:0000269|PubMed:18359941,ECO:0000269|PubMed:18703417, ECO:0000269|PubMed:19854139,ECO:0000269|PubMed:20061386, ECO:0000269|PubMed:20403326,ECO:0000269|PubMed:20525694}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
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 UBE2D2_C9orf3 |
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 UBE2D2_C9orf3 |
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 |
UBE2D2 | NEDD4, BARD1, DTX3L, UBE3A, RNF2, CBL, BTRC, FBXW2, FBXO7, FBXL3, FBXO4, RAF1, STUB1, PJA2, PJA1, CDKN1B, BIRC3, DDX58, STAM2, EPS15, POLM, POLL, UBASH3B, UBA6, PDZRN3, OTUB1, ING4, UFM1, AMFR, MUL1, CADPS2, CNOT4, DTX1, UBE4A, RNF103, RNF181, MAP3K1, MIB1, RFWD3, RMND5B, RNF11, RNF111, RNF13, RNF130, RNF150, RNF165, RNF167, RNF186, RNF25, RNF26, RNF43, SIAH1, RNF4, TOPORS, UHRF2, LTN1, RNF115, ZNRF1, ZNRF2, ZNRF4, XIAP, RNF125, RNF126, UBOX5, RNF5, RING1, DTX3, RNF14, RNF114, TRIM8, DZIP3, MID1, MKRN3, TRIM39, TRIM27, RNF10, RNF166, RNF185, TRIM43, TRAF6, BIRC8, RNF138, BFAR, TRAF7, MARCH3, RSPRY1, RLIM, LRSAM1, CHFR, ARIH2, MGRN1, TRIM55, RNF38, RNF7, TRIM17, TRIM2, TRIM25, TRIM26, TRIM31, TRIM35, TRIM5, UBE4B, BIRC2, BIRC7, BRCA1, MAPT, NFKBIA, MID2, TRIM10, TRIM11, TRIM50, TRIM7, TRIM37, TRIM38, TRIM45, TRIM32, UBC, UBA1, QSOX1, UBE2D2, RELA, STK11, NEDD4L, NEDD8, MDM2, MDM4, CUL3, CBLB, RAG1, SOCS6, RCHY1, PARK2, VPS18, UBR5, TRIM41, TRIM28, TRIM23, MYLIP, SIAH2, VPRBP, FBXO2, LNX1, HUWE1, CBLC, RBX1, RFWD2, TRIM21, ANAPC11, MARCH5, TRIM13, TRIM63, TRAIP, TRIM36, RNF122, SYVN1, HERC4, WWP2, ITCH, PELI1, TTC3, NSMCE1, RNF151, UBE2D1, UBQLN1, UBE2L3, SSSCA1, AHCYL1, TAX1BP3, UBE2M, UBXN7, ZPR1, UBE2V1, USP9X, TIAL1, TTC1, TXN, HSP90AA4P, RFFL, UBTD1, RNF135, KCMF1, MARCH7, RNF146, CCNB1, RNF34, MARCH6, UBE3C, VHL, RBCK1, RNF31, ANAPC2, ARL6IP6, THAP8, FCGR2A, FSD1, NFYA, NKD2, OR5F1, RDH12, SPRY2, UBB, ACOX1, AASDHPPT, CCDC58, MTAP, UBE2I, UBE2K, UBE2R2, UBE2F, LNX2, RC3H2, RC3H1, AREL1, SMURF1, SMURF2, WWP1, HECW1, TRIM62, MCM2, SPOP, RNF170, F12, NAT10, TRIM3, PLEC, AAK1, SEC24B, CCDC88A, EYA4, DVL3, PPIP5K2, QSER1, LUZP1, WSB1, F3 | C9orf3 | SUN2, LRRC40, ZDHHC17, TUBA4A, SUZ12, TUBB3 |
- 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 UBE2D2_C9orf3 |
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 UBE2D2_C9orf3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C9orf3 | C0004238 | Atrial Fibrillation | 1 | CTD_human |
Tgene | C9orf3 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Tgene | C9orf3 | C3495559 | Juvenile arthritis | 1 | CTD_human |