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Fusion gene ID: 30527 |
FusionGeneSummary for RASAL1_DDX54 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RASAL1_DDX54 | Fusion gene ID: 30527 | Hgene | Tgene | Gene symbol | RASAL1 | DDX54 | Gene ID | 8437 | 79039 |
| Gene name | RAS protein activator like 1 | DEAD-box helicase 54 | |
| Synonyms | RASAL | DP97 | |
| Cytomap | 12q24.13 | 12q24.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rasGAP-activating-like protein 1GAP1 like proteinras GTPase-activating-like protein | ATP-dependent RNA helicase DDX54ATP-dependent RNA helicase DP97DEAD (Asp-Glu-Ala-Asp) box polypeptide 54DEAD box RNA helicase 97 kDaDEAD box helicase 97 KDaDEAD box protein 54 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | O95294 | Q8TDD1 | |
| Ensembl transtripts involved in fusion gene | ENST00000546530, ENST00000261729, ENST00000446861, ENST00000548055, ENST00000418411, | ENST00000314045, ENST00000306014, ENST00000549271, | |
| Fusion gene scores | * DoF score | 2 X 4 X 4=32 | 3 X 5 X 4=60 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 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: RASAL1 [Title/Abstract] AND DDX54 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | RASAL1 | GO:1903861 | positive regulation of dendrite extension | 23999003 |
| Tgene | DDX54 | GO:0006396 | RNA processing | 12466272 |
| Tgene | DDX54 | GO:0016070 | RNA metabolic process | 12466272 |
| 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-JW-A5VJ-01A | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| TCGA | RV | KIRP | TCGA-A4-A5Y0-01A | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| TCGA | LD | UCEC | TCGA-EY-A2ON-01A | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| * 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 |
| Frame-shift | ENST00000546530 | ENST00000314045 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| Frame-shift | ENST00000546530 | ENST00000306014 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| 5CDS-intron | ENST00000546530 | ENST00000549271 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| Frame-shift | ENST00000261729 | ENST00000314045 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| Frame-shift | ENST00000261729 | ENST00000306014 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| 5CDS-intron | ENST00000261729 | ENST00000549271 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| In-frame | ENST00000446861 | ENST00000314045 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| In-frame | ENST00000446861 | ENST00000306014 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| 5CDS-intron | ENST00000446861 | ENST00000549271 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| In-frame | ENST00000548055 | ENST00000314045 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| In-frame | ENST00000548055 | ENST00000306014 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| 5CDS-intron | ENST00000548055 | ENST00000549271 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| 5UTR-3CDS | ENST00000418411 | ENST00000314045 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| 5UTR-3CDS | ENST00000418411 | ENST00000306014 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| 5UTR-intron | ENST00000418411 | ENST00000549271 | RASAL1 | chr12 | 113545890 | - | DDX54 | chr12 | 113616831 | - |
| Frame-shift | ENST00000546530 | ENST00000314045 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| Frame-shift | ENST00000546530 | ENST00000306014 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| 5CDS-intron | ENST00000546530 | ENST00000549271 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| Frame-shift | ENST00000261729 | ENST00000314045 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| Frame-shift | ENST00000261729 | ENST00000306014 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| 5CDS-intron | ENST00000261729 | ENST00000549271 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| Frame-shift | ENST00000446861 | ENST00000314045 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| Frame-shift | ENST00000446861 | ENST00000306014 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| 5CDS-intron | ENST00000446861 | ENST00000549271 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| Frame-shift | ENST00000548055 | ENST00000314045 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| Frame-shift | ENST00000548055 | ENST00000306014 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| 5CDS-intron | ENST00000548055 | ENST00000549271 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| 5UTR-3CDS | ENST00000418411 | ENST00000314045 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| 5UTR-3CDS | ENST00000418411 | ENST00000306014 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| 5UTR-intron | ENST00000418411 | ENST00000549271 | RASAL1 | chr12 | 113552605 | - | DDX54 | chr12 | 113603837 | - |
| In-frame | ENST00000546530 | ENST00000314045 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| In-frame | ENST00000546530 | ENST00000306014 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| 5CDS-5UTR | ENST00000546530 | ENST00000549271 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| In-frame | ENST00000261729 | ENST00000314045 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| In-frame | ENST00000261729 | ENST00000306014 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| 5CDS-5UTR | ENST00000261729 | ENST00000549271 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| Frame-shift | ENST00000446861 | ENST00000314045 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| Frame-shift | ENST00000446861 | ENST00000306014 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| 5CDS-5UTR | ENST00000446861 | ENST00000549271 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| Frame-shift | ENST00000548055 | ENST00000314045 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| Frame-shift | ENST00000548055 | ENST00000306014 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| 5CDS-5UTR | ENST00000548055 | ENST00000549271 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| 5UTR-3CDS | ENST00000418411 | ENST00000314045 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| 5UTR-3CDS | ENST00000418411 | ENST00000306014 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
| 5UTR-5UTR | ENST00000418411 | ENST00000549271 | RASAL1 | chr12 | 113553739 | - | DDX54 | chr12 | 113596914 | - |
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FusionProtFeatures for RASAL1_DDX54 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RASAL1 | DDX54 |
| Probable inhibitory regulator of the Ras-cyclic AMPpathway (PubMed:9751798). Plays a role in dendrite formation bymelanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003,ECO:0000269|PubMed:9751798}. | Has RNA-dependent ATPase activity. Represses thetranscriptional activity of nuclear receptors.{ECO:0000269|PubMed:12466272}. |
| 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 |
| Hgene | RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000261729 | - | 10 | 22 | 120_216 | 283 | 805 | Domain | C2 2 |
| Hgene | RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000261729 | - | 10 | 22 | 1_88 | 283 | 805 | Domain | C2 1 |
| Hgene | RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000446861 | - | 9 | 21 | 120_216 | 283 | 777 | Domain | C2 2 |
| Hgene | RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000446861 | - | 9 | 21 | 1_88 | 283 | 777 | Domain | C2 1 |
| Hgene | RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000546530 | - | 10 | 22 | 120_216 | 283 | 807 | Domain | C2 2 |
| Hgene | RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000546530 | - | 10 | 22 | 1_88 | 283 | 807 | Domain | C2 1 |
| Hgene | RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000548055 | - | 9 | 21 | 120_216 | 283 | 806 | Domain | C2 2 |
| Hgene | RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000548055 | - | 9 | 21 | 1_88 | 283 | 806 | Domain | C2 1 |
| - 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 |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000261729 | - | 10 | 22 | 499_502 | 283 | 805 | Compositional bias | Note=Poly-Leu |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000446861 | - | 9 | 21 | 499_502 | 283 | 777 | Compositional bias | Note=Poly-Leu |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000546530 | - | 10 | 22 | 499_502 | 283 | 807 | Compositional bias | Note=Poly-Leu |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000548055 | - | 9 | 21 | 499_502 | 283 | 806 | Compositional bias | Note=Poly-Leu |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000261729 | - | 10 | 22 | 301_511 | 283 | 805 | Domain | Ras-GAP |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000261729 | - | 10 | 22 | 565_672 | 283 | 805 | Domain | PH |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000446861 | - | 9 | 21 | 301_511 | 283 | 777 | Domain | Ras-GAP |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000446861 | - | 9 | 21 | 565_672 | 283 | 777 | Domain | PH |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000546530 | - | 10 | 22 | 301_511 | 283 | 807 | Domain | Ras-GAP |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000546530 | - | 10 | 22 | 565_672 | 283 | 807 | Domain | PH |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000548055 | - | 9 | 21 | 301_511 | 283 | 806 | Domain | Ras-GAP |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000548055 | - | 9 | 21 | 565_672 | 283 | 806 | Domain | PH |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000261729 | - | 10 | 22 | 674_710 | 283 | 805 | Zinc finger | Btk-type |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000446861 | - | 9 | 21 | 674_710 | 283 | 777 | Zinc finger | Btk-type |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000546530 | - | 10 | 22 | 674_710 | 283 | 807 | Zinc finger | Btk-type |
| Hgene | >RASAL1 | chr12:113553739 | chr12:113596914 | ENST00000548055 | - | 9 | 21 | 674_710 | 283 | 806 | Zinc finger | Btk-type |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000306014 | - | 18 | 20 | 127_299 | 804 | 882 | Domain | Helicase ATP-binding |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000306014 | - | 18 | 20 | 326_473 | 804 | 882 | Domain | Helicase C-terminal |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000314045 | - | 18 | 20 | 127_299 | 804 | 883 | Domain | Helicase ATP-binding |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000314045 | - | 18 | 20 | 326_473 | 804 | 883 | Domain | Helicase C-terminal |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000306014 | - | 18 | 20 | 247_250 | 804 | 882 | Motif | Note=DEAD box |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000306014 | - | 18 | 20 | 96_124 | 804 | 882 | Motif | Note=Q motif |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000314045 | - | 18 | 20 | 247_250 | 804 | 883 | Motif | Note=DEAD box |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000314045 | - | 18 | 20 | 96_124 | 804 | 883 | Motif | Note=Q motif |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000306014 | - | 18 | 20 | 140_147 | 804 | 882 | Nucleotide binding | ATP |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000314045 | - | 18 | 20 | 140_147 | 804 | 883 | Nucleotide binding | ATP |
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FusionGeneSequence for RASAL1_DDX54 |
| 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 RASAL1_DDX54 |
| 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 |
| RASAL1 | NAPRT, RPS6KA3, RRAGB, GAPVD1 | DDX54 | ESR1, ESR2, NR3C1, PGR, OTUB1, NEDD4, NEDD4L, SIRT7, APP, CSNK2A1, SEMA4A, POLR2G, TMED9, SRPK3, HIPK1, VCP, BRCA1, OBSL1, NOL12, RPL14, NIFK, NPM1, CSNK2A2, DDX10, NOC2L, RRP15, SRP72, WDR12, SSB, SCARNA22, IFI16, TCTN3, CNTROB, SPICE1, RPGRIP1L, TMEM17, TMEM67, CENPJ, HNRNPU, RPL10, NOP56, CBX8, FAM83H, SMURF1, YWHAE, ZNF746, TPTE, RRP8, PDGFB, RBM34, RPL18A, FGF8, MECP2, RBM4, HIST1H1T, ZNF2, GLTSCR2, RPL18, ZNF512, SYNCRIP, ZBTB48, RPS14, ZNF692, DGCR8, PPAN, FGF3 |
| - 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 |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000306014 | - | 18 | 20 | 605_647 | 804 | 882 | nuclear receptors |
| Tgene | DDX54 | chr12:113553739 | chr12:113596914 | ENST00000314045 | - | 18 | 20 | 605_647 | 804 | 883 | nuclear receptors |
| - 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 RASAL1_DDX54 |
| 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 RASAL1_DDX54 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RASAL1 | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | DDX54 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | DDX54 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Tgene | DDX54 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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