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Fusion gene ID: 9617 |
FusionGeneSummary for DDX42_DCAF7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DDX42_DCAF7 | Fusion gene ID: 9617 | Hgene | Tgene | Gene symbol | DDX42 | DCAF7 | Gene ID | 11325 | 10238 |
| Gene name | DEAD-box helicase 42 | DDB1 and CUL4 associated factor 7 | |
| Synonyms | DDX42P|RHELP|RNAHP|SF3B8|SF3b125 | AN11|HAN11|SWAN-1|WDR68 | |
| Cytomap | 17q23.3 | 17q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-dependent RNA helicase DDX42DEAD (Asp-Glu-Ala-Asp) box helicase 42DEAD (Asp-Glu-Ala-Asp) box polypeptide 42SF3b DEAD box proteinsplicing factor 3B-associated 125 kDa proteinsplicing factor 3b, subunit 8 | DDB1- and CUL4-associated factor 7WD repeat-containing protein 68WD repeat-containing protein An11 homologhuman anthocyaninseven-WD-repeat protein of the AN11 family-1 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q86XP3 | P61962 | |
| Ensembl transtripts involved in fusion gene | ENST00000578681, ENST00000583590, ENST00000359353, ENST00000389924, ENST00000457800, ENST00000582985, | ENST00000577702, ENST00000310827, ENST00000431926, ENST00000415273, | |
| Fusion gene scores | * DoF score | 9 X 7 X 3=189 | 8 X 6 X 4=192 |
| # samples | 9 | 10 | |
| ** MAII score | log2(9/189*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/192*10)=-0.941106310946431 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DDX42 [Title/Abstract] AND DCAF7 [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 | DDX42 | GO:0008104 | protein localization | 19377511 |
| 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-AN-A0FW-01A | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| * 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-3UTR | ENST00000578681 | ENST00000577702 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000578681 | ENST00000310827 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000578681 | ENST00000431926 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-intron | ENST00000578681 | ENST00000415273 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000583590 | ENST00000577702 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000583590 | ENST00000310827 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000583590 | ENST00000431926 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-intron | ENST00000583590 | ENST00000415273 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000359353 | ENST00000577702 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000359353 | ENST00000310827 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000359353 | ENST00000431926 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-intron | ENST00000359353 | ENST00000415273 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000389924 | ENST00000577702 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000389924 | ENST00000310827 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-3UTR | ENST00000389924 | ENST00000431926 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| 5UTR-intron | ENST00000389924 | ENST00000415273 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| intron-3UTR | ENST00000457800 | ENST00000577702 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| intron-3UTR | ENST00000457800 | ENST00000310827 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| intron-3UTR | ENST00000457800 | ENST00000431926 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| intron-intron | ENST00000457800 | ENST00000415273 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| intron-3UTR | ENST00000582985 | ENST00000577702 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| intron-3UTR | ENST00000582985 | ENST00000310827 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| intron-3UTR | ENST00000582985 | ENST00000431926 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
| intron-intron | ENST00000582985 | ENST00000415273 | DDX42 | chr17 | 61851736 | + | DCAF7 | chr17 | 61655831 | + |
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FusionProtFeatures for DDX42_DCAF7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DDX42 | DCAF7 |
| ATP-dependent RNA helicase. Binds to partially double-stranded RNAs (dsRNAs) in order to unwind RNA secondarystructures. Unwinding is promoted in the presence of single-strandbinding proteins. Mediates also RNA duplex formation therebydisplacing the single-strand RNA binding protein. ATP and ADPmodulate its activity: ATP binding and hydrolysis by DDX42triggers RNA strand separation, whereas the ADP-bound form of theprotein triggers annealing of complementary RNA strands. Involvedin the survival of cells by interacting with TP53BP2 and therebycounteracting the apoptosis-stimulating activity of TP53BP2.Relocalizes TP53BP2 to the cytoplasm.{ECO:0000269|PubMed:16397294, ECO:0000269|PubMed:19377511}. | Involved in craniofacial development. Acts upstream ofthe EDN1 pathway and is required for formation of the upper jawequivalent, the palatoquadrate. The activity required for EDN1pathway function differs between the first and second arches (Bysimilarity). Associates with DIAPH1 and controls GLI1transcriptional activity. Could be involved in normal and diseaseskin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000250,ECO:0000269|PubMed:16887337, ECO:0000269|PubMed:16949367}. |
| 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 DDX42_DCAF7 |
| 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 DDX42_DCAF7 |
| 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 |
| DDX42 | RECQL5, SF3B1, SF3A2, RUVBL2, RUVBL1, MEPCE, SIRT7, ISG15, APP, TCERG1, SYNCRIP, RPS6KA4, RPL36, PIN4, PHF20, KAL1, NOSIP, EPRS, FOXJ3, SNRPC, SF3A1, SF3B4, DHX15, U2SURP, PRPF19, ITGA4, LMNA, FBXO25, SHFM1, FUS, MOV10, NXF1, CUL7, OBSL1, EED, MAGEA10, NTRK1, LRIF1, SNW1, CDC5L, MDM2, SNRPE, SERPINB2, FOXA1, TRIM25 | DCAF7 | MAP3K1, SFN, DYRK1A, DYRK1B, DYRK2, DDB1, FAF2, YWHAG, PARD3, YWHAH, YWHAZ, CUL4A, CUL5, COPS6, HIPK2, DIAPH1, SMAD2, SMAD3, ATP13A2, APP, BARD1, EPAS1, YWHAE, TRAF3, CBX7, BIRC2, BIRC3, LATS2, YWHAB, WWOX, PRKACA, CSNK2A2, PRKACB, AGO2, AURKA, CEP57, CEP76, TP53, VCP, RNF2, CSNK2A1, CCT2, TCP1, CCT3, CCT4, CCT5, CCT6A, CCT7, CCT8, FBXW11, AUTS2, MED23, B9D2, NINL, XPO1, GTSE1, SKI, TRAF1, RAD54L2, NFATC2, SOWAHC, FBRSL1, SOWAHA, RNF169, TROAP, ZNF703, FAM53C, FBRS, PCGF3, SMARCAL1, ZNF503, YAF2, C10orf71, ERF, FNTB, RYBP, CBX6, NET1, ENAH, GLCCI1, GPBP1L1, CDK17, PPFIBP1, TXNDC5, FOXK1, PRKCI, LRCH3, NUMB, LRCH2, AMBRA1, DOCK7, CRTC3, KIAA1671, CAMSAP3, DDA1, EPS15L1, FAM117B, XRN2, CLASP2, SKP1, DYNLL2, ANKS6, CEP170, PPP1CB, C2orf71, DYNLL1, CBY1, PPP1CA, RAB3IP, INPP5E, BBS12, CCDC40, C21orf2, HSF1, PTPDC1, PLK1, TRIM25, BRCA1, SIRT7 |
| - 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 DDX42_DCAF7 |
| 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 DDX42_DCAF7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DCAF7 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | DCAF7 | C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 1 | CTD_human |
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