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Fusion gene ID: 10469 |
FusionGeneSummary for DPH6_AQR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DPH6_AQR | Fusion gene ID: 10469 | Hgene | Tgene | Gene symbol | DPH6 | AQR | Gene ID | 89978 | 9716 |
| Gene name | diphthamine biosynthesis 6 | aquarius intron-binding spliceosomal factor | |
| Synonyms | ATPBD4 | IBP160|fSAP164 | |
| Cytomap | 15q14 | 15q14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | diphthine--ammonia ligaseATP binding domain 4ATP-binding domain-containing protein 4DPH6 homologdiphthamide synthasediphthamide synthetaseprotein DPH6 homolog | RNA helicase aquariusaquarius homologfunctional spliceosome-associated protein 164intron-binding protein aquariusintron-binding protein of 160 kDa | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q7L8W6 | O60306 | |
| Ensembl transtripts involved in fusion gene | ENST00000560386, ENST00000256538, ENST00000440392, | ENST00000156471, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: DPH6 [Title/Abstract] AND AQR [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 |
| Tgene | AQR | GO:0000398 | mRNA splicing, via spliceosome | 28076346 |
| 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 | ESCA | TCGA-LN-A49V-01A | DPH6 | chr15 | 35830475 | - | AQR | chr15 | 35149307 | - |
| * 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 | ENST00000560386 | ENST00000156471 | DPH6 | chr15 | 35830475 | - | AQR | chr15 | 35149307 | - |
| Frame-shift | ENST00000256538 | ENST00000156471 | DPH6 | chr15 | 35830475 | - | AQR | chr15 | 35149307 | - |
| Frame-shift | ENST00000440392 | ENST00000156471 | DPH6 | chr15 | 35830475 | - | AQR | chr15 | 35149307 | - |
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FusionProtFeatures for DPH6_AQR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DPH6 | AQR |
| 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}. | Involved in pre-mRNA splicing as component of thespliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770,PubMed:28076346). Intron-binding spliceosomal protein required tolink pre-mRNA splicing and snoRNP (small nucleolarribonucleoprotein) biogenesis (PubMed:16949364). Plays a key rolein position-dependent assembly of intron-encoded box C/D smallsnoRNP, splicing being required for snoRNP assembly(PubMed:16949364). May act by helping the folding of the snoRNAsequence. Binds to intron of pre-mRNAs in a sequence-independentmanner, contacting the region between snoRNA and the branchpointof introns (40 nucleotides upstream of the branchpoint) during thelate stages of splicing (PubMed:16949364). Has ATP-dependent RNAhelicase activity and can unwind double-stranded RNA moleculeswith a 3' overhang (in vitro) (PubMed:25599396).{ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:16949364,ECO:0000269|PubMed:25599396, ECO:0000269|PubMed:28076346,ECO:0000269|PubMed:28502770}. |
| 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 DPH6_AQR |
| 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 DPH6_AQR |
| 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 |
| DPH6 | ATP2B2, KIAA1919, SLC18A1, ADAMTS4, S100A8, GRPR, PTGIR, TMCO3, C5AR2, SMARCB1 | AQR | USP28, SIRT7, HNRNPA1, EIF4A3, MAGOH, PQBP1, RBM22, WDR83, ZNF830, RBM4, WDR77, LGR4, SHMT2, NXF1, OBSL1, SUZ12, RNF2, BMI1, SNRPA1, DHX8, TSSC4, USB1, RALYL, PPIE, CCDC94, SNRNP40, SNIP1, CRNKL1, ISY1-RAB43, ISY1, SF3A2, XAB2, PPP4R1, NTRK1, BLM, SNW1, PRPF19, SNRPE, SYF2, KIAA1143, ELAVL2, DVL3, SNRPF, SNRPN, SNRPG, C11orf57, PLRG1, CD44, ZC3H18, PNN, CD2BP2, EAPP |
| - 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 DPH6_AQR |
| 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 DPH6_AQR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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