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Fusion gene ID: 8088 |
FusionGeneSummary for COPS2_DPH6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COPS2_DPH6 | Fusion gene ID: 8088 | Hgene | Tgene | Gene symbol | COPS2 | DPH6 | Gene ID | 9318 | 89978 |
| Gene name | COP9 signalosome subunit 2 | diphthamine biosynthesis 6 | |
| Synonyms | ALIEN|CSN2|SGN2|TRIP15 | ATPBD4 | |
| Cytomap | 15q21.1 | 15q14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | COP9 signalosome complex subunit 2COP9 constitutive photomorphogenic homolog subunit 2JAB1-containing signalosome subunit 2TR-interacting protein 15TRIP-15alien homologsignalosome subunit 2thyroid receptor-interacting protein 15 | diphthine--ammonia ligaseATP binding domain 4ATP-binding domain-containing protein 4DPH6 homologdiphthamide synthasediphthamide synthetaseprotein DPH6 homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P61201 | Q7L8W6 | |
| Ensembl transtripts involved in fusion gene | ENST00000388901, ENST00000299259, ENST00000542928, | ENST00000560386, ENST00000256538, ENST00000440392, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 5 X 4 X 3=60 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COPS2 [Title/Abstract] AND DPH6 [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 | COPS2 | GO:0000338 | protein deneddylation | 19141280 |
| 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 | BRCA | TCGA-EW-A1PD-01A | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
| * 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 |
| 5CDS-intron | ENST00000388901 | ENST00000560386 | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
| 5CDS-intron | ENST00000388901 | ENST00000256538 | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
| 5CDS-intron | ENST00000388901 | ENST00000440392 | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
| 5CDS-intron | ENST00000299259 | ENST00000560386 | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
| 5CDS-intron | ENST00000299259 | ENST00000256538 | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
| 5CDS-intron | ENST00000299259 | ENST00000440392 | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
| 5CDS-intron | ENST00000542928 | ENST00000560386 | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
| 5CDS-intron | ENST00000542928 | ENST00000256538 | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
| 5CDS-intron | ENST00000542928 | ENST00000440392 | COPS2 | chr15 | 49447722 | - | DPH6 | chr15 | 35747021 | - |
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FusionProtFeatures for COPS2_DPH6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COPS2 | DPH6 |
| Essential component of the COP9 signalosome complex(CSN), a complex involved in various cellular and developmentalprocesses. The CSN complex is an essential regulator of theubiquitin (Ubl) conjugation pathway by mediating the deneddylationof the cullin subunits of SCF-type E3 ligase complexes, leading todecrease the Ubl ligase activity of SCF-type complexes such asSCF, CSA or DDB2. The complex is also involved in phosphorylationof p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP,possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protectsdegradation by the Ubl system, respectively. Involved in earlystage of neuronal differentiation via its interaction with NIF3L1.{ECO:0000269|PubMed:11285227, ECO:0000269|PubMed:11337588,ECO:0000269|PubMed:12628923, ECO:0000269|PubMed:12732143,ECO:0000269|PubMed:9535219}. | Amidase that catalyzes the last step of diphthamidebiosynthesis using ammonium and ATP. Diphthamide biosynthesisconsists in the conversion of an L-histidine residue in thetranslation elongation factor (EEF2) to diphthamide (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:23169644}. |
| 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 COPS2_DPH6 |
| 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 COPS2_DPH6 |
| 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 |
| COPS2 | WRAP73, COPS8, NR0B1, IRF8, NIF3L1, THRA, THRB, NR2F1, SIN3A, CPSF1, COPS5, COPS6, KLHL13, UIMC1, DDB1, CUL4A, COPS3, CUL1, RFWD2, VDR, NCOR1, SIN3B, CUL2, ING1, ING2, ABCA1, NFKBIA, GPS1, COPS4, TP53, JUN, CUL3, CSNK2A1, EIF3E, NEDD8, AR, PRKD1, COPS7A, ANAPC1, CDC16, ANAPC4, PSMC5, PSMC3, PSMD5, PSMC1, PSMA6, DDB2, ERCC8, CUL4B, CUL5, DCUN1D1, MAP3K10, GFER, NAP1L1, HIST1H3A, HIST1H4A, NPM1, ERCC3, GTF2H2, TRIP11, MED4, MED23, GRK5, LRR1, DDA1, DCAF8, DCAF11, FBXO6, COPS7B, SEPT2, SLAIN2, SEPHS1, PFKFB2, EHBP1L1, GAPVD1, PMPCA, IRS2, IRF5, SENP8, FBXW4, EPB41L1, EP300, CREBBP, IP6K1, FBXO17, KLHDC3, DCAF4, APPBP2, FEM1B, DCAF6, FBXO7, BTBD1, BTBD2, DCAF4L2, PRAME, KDM1A, NUCKS1, KRAS, IBTK, RAB5C, CEP170P1, MYEOV2, APBB3, KLHL10, DET1, UBE2M, SYCE3, FBXL5, DENR, FBXL14, SKP2, TRIM25 | DPH6 | ATP2B2, KIAA1919, SLC18A1, ADAMTS4, S100A8, GRPR, PTGIR, TMCO3, C5AR2, SMARCB1 |
| - 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 COPS2_DPH6 |
| 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 COPS2_DPH6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COPS2 | C0014175 | Endometriosis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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