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Fusion gene ID: 30906 |
FusionGeneSummary for RECQL5_ARHGDIA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RECQL5_ARHGDIA | Fusion gene ID: 30906 | Hgene | Tgene | Gene symbol | RECQL5 | ARHGDIA | Gene ID | 9400 | 396 |
| Gene name | RecQ like helicase 5 | Rho GDP dissociation inhibitor alpha | |
| Synonyms | RECQ5 | GDIA1|HEL-S-47e|NPHS8|RHOGDI|RHOGDI-1 | |
| Cytomap | 17q25.1 | 17q25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-dependent DNA helicase Q5DNA helicase, RecQ-like type 5RecQ helicase-like 5RecQ protein-like 5 | rho GDP-dissociation inhibitor 1GDP-dissociation inhibitor, aplysia RAS-related 1Rho GDP dissociation inhibitor (GDI) alphaepididymis secretory sperm binding protein Li 47e | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O94762 | P52565 | |
| Ensembl transtripts involved in fusion gene | ENST00000423245, ENST00000317905, ENST00000420326, ENST00000340830, ENST00000584999, ENST00000443199, | ENST00000582520, ENST00000269321, ENST00000400721, ENST00000584461, ENST00000541078, ENST00000580685, ENST00000581876, | |
| Fusion gene scores | * DoF score | 8 X 7 X 5=280 | 2 X 2 X 2=8 |
| # samples | 9 | 2 | |
| ** MAII score | log2(9/280*10)=-1.63742992061529 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: RECQL5 [Title/Abstract] AND ARHGDIA [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 | RECQL5 | GO:0034244 | negative regulation of transcription elongation from RNA polymerase II promoter | 23748380 |
| 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 |
| ChiTaRS3.1 | AA434220 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| * 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-intron | ENST00000423245 | ENST00000582520 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000423245 | ENST00000269321 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000423245 | ENST00000400721 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000423245 | ENST00000584461 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000423245 | ENST00000541078 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000423245 | ENST00000580685 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000423245 | ENST00000581876 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000317905 | ENST00000582520 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000317905 | ENST00000269321 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000317905 | ENST00000400721 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000317905 | ENST00000584461 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000317905 | ENST00000541078 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000317905 | ENST00000580685 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000317905 | ENST00000581876 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000420326 | ENST00000582520 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000420326 | ENST00000269321 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000420326 | ENST00000400721 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000420326 | ENST00000584461 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000420326 | ENST00000541078 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000420326 | ENST00000580685 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000420326 | ENST00000581876 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000340830 | ENST00000582520 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000340830 | ENST00000269321 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000340830 | ENST00000400721 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000340830 | ENST00000584461 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000340830 | ENST00000541078 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000340830 | ENST00000580685 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000340830 | ENST00000581876 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000584999 | ENST00000582520 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000584999 | ENST00000269321 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000584999 | ENST00000400721 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000584999 | ENST00000584461 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000584999 | ENST00000541078 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000584999 | ENST00000580685 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000584999 | ENST00000581876 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000443199 | ENST00000582520 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000443199 | ENST00000269321 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000443199 | ENST00000400721 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-intron | ENST00000443199 | ENST00000584461 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000443199 | ENST00000541078 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000443199 | ENST00000580685 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
| intron-3UTR | ENST00000443199 | ENST00000581876 | RECQL5 | chr17 | 73627279 | - | ARHGDIA | chr17 | 79826673 | - |
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FusionProtFeatures for RECQL5_ARHGDIA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RECQL5 | ARHGDIA |
| Isoform beta is a DNA helicase that plays an importantrole in DNA replication, transcription and repair. Inhibitselongation of stalled transcripts at DNA damage sites by bindingto the RNA polymerase II subunit POLR2A and blocking the TCEA1binding site. Required for mitotic chromosome separation aftercross-over events and cell cycle progress. Required for efficientDNA repair, including repair of inter-strand cross-links.Stimulates DNA decatenation mediated by TOP2A. Prevents sisterchromatid exchange and homologous recombination.{ECO:0000269|PubMed:20231364, ECO:0000269|PubMed:20348101,ECO:0000269|PubMed:20643585, ECO:0000269|PubMed:22013166,ECO:0000269|PubMed:22973052, ECO:0000269|PubMed:23715498,ECO:0000269|PubMed:23748380}. | Controls Rho proteins homeostasis. Regulates the GDP/GTPexchange reaction of the Rho proteins by inhibiting thedissociation of GDP from them, and the subsequent binding of GTPto them. Retains Rho proteins such as CDC42, RAC1 and RHOA in aninactive cytosolic pool, regulating their stability and protectingthem from degradation. Actively involved in the recycling anddistribution of activated Rho GTPases in the cell, mediatesextraction from membranes of both inactive and activated moleculesdue its exceptionally high affinity for prenylated forms. Throughthe modulation of Rho proteins, may play a role in cell motilityregulation. In glioma cells, inhibits cell migration and invasionby mediating the signals of SEMA5A and PLXNB3 that lead toinactivation of RAC1. {ECO:0000269|PubMed:20400958,ECO:0000269|PubMed:23434736}. |
| 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 RECQL5_ARHGDIA |
| 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 RECQL5_ARHGDIA |
| 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 |
| - 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 RECQL5_ARHGDIA |
| 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 RECQL5_ARHGDIA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ARHGDIA | C0019693 | HIV Infections | 1 | CTD_human |
| Tgene | ARHGDIA | C0022548 | Keloid | 1 | CTD_human |
| Tgene | ARHGDIA | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | ARHGDIA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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