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Fusion gene ID: 9956 |
FusionGeneSummary for DHX9_RASAL2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DHX9_RASAL2 | Fusion gene ID: 9956 | Hgene | Tgene | Gene symbol | DHX9 | RASAL2 | Gene ID | 1660 | 9462 |
Gene name | DExH-box helicase 9 | RAS protein activator like 2 | |
Synonyms | DDX9|LKP|NDH2|NDHII|RHA | NGAP | |
Cytomap | 1q25.3 | 1q25.2 | |
Type of gene | protein-coding | protein-coding | |
Description | ATP-dependent RNA helicase ADEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9DEAH (Asp-Glu-Ala-His) box helicase 9DEAH (Asp-Glu-Ala-His) box polypeptide 9DEAH box protein 9DEAH-box helicase 9RNA helicase Aleukophysinnuclear DNA helicase II | ras GTPase-activating protein nGAPRASAL2/ACVR1 fusionRas protein activator like 1 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q08211 | Q9UJF2 | |
Ensembl transtripts involved in fusion gene | ENST00000367549, ENST00000485081, | ENST00000448150, ENST00000367649, ENST00000465723, ENST00000462775, | |
Fusion gene scores | * DoF score | 7 X 7 X 3=147 | 9 X 8 X 6=432 |
# samples | 7 | 13 | |
** MAII score | log2(7/147*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/432*10)=-1.73251968913501 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: DHX9 [Title/Abstract] AND RASAL2 [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 | DHX9 | GO:0010501 | RNA secondary structure unwinding | 1537828|9111062 |
Hgene | DHX9 | GO:0032508 | DNA duplex unwinding | 9111062|21561811 |
Hgene | DHX9 | GO:0039695 | DNA-templated viral transcription | 11096080 |
Hgene | DHX9 | GO:0044806 | G-quadruplex DNA unwinding | 21561811 |
Hgene | DHX9 | GO:0046833 | positive regulation of RNA export from nucleus | 11402034 |
Hgene | DHX9 | GO:0050434 | positive regulation of viral transcription | 11096080 |
Hgene | DHX9 | GO:0050684 | regulation of mRNA processing | 28355180 |
Hgene | DHX9 | GO:2000765 | regulation of cytoplasmic translation | 28355180 |
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 | PRAD | TCGA-G9-7522-01A | DHX9 | chr1 | 182808591 | + | RASAL2 | chr1 | 178359235 | + |
* 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-3CDS | ENST00000367549 | ENST00000448150 | DHX9 | chr1 | 182808591 | + | RASAL2 | chr1 | 178359235 | + |
5UTR-3CDS | ENST00000367549 | ENST00000367649 | DHX9 | chr1 | 182808591 | + | RASAL2 | chr1 | 178359235 | + |
5UTR-intron | ENST00000367549 | ENST00000465723 | DHX9 | chr1 | 182808591 | + | RASAL2 | chr1 | 178359235 | + |
5UTR-intron | ENST00000367549 | ENST00000462775 | DHX9 | chr1 | 182808591 | + | RASAL2 | chr1 | 178359235 | + |
intron-3CDS | ENST00000485081 | ENST00000448150 | DHX9 | chr1 | 182808591 | + | RASAL2 | chr1 | 178359235 | + |
intron-3CDS | ENST00000485081 | ENST00000367649 | DHX9 | chr1 | 182808591 | + | RASAL2 | chr1 | 178359235 | + |
intron-intron | ENST00000485081 | ENST00000465723 | DHX9 | chr1 | 182808591 | + | RASAL2 | chr1 | 178359235 | + |
intron-intron | ENST00000485081 | ENST00000462775 | DHX9 | chr1 | 182808591 | + | RASAL2 | chr1 | 178359235 | + |
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FusionProtFeatures for DHX9_RASAL2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DHX9 | RASAL2 |
Multifunctional ATP-dependent nucleic acid helicase thatunwinds DNA and RNA in a 3' to 5' direction and that playsimportant roles in many processes, such as DNA replication,transcriptional activation, post-transcriptional RNA regulation,mRNA translation and RNA-mediated gene silencing (PubMed:9111062,PubMed:11416126, PubMed:12711669, PubMed:15355351,PubMed:16680162, PubMed:17531811, PubMed:20669935,PubMed:21561811, PubMed:24049074, PubMed:25062910,PubMed:24990949, PubMed:28221134). Requires a 3'-single-strandedtail as entry site for acid nuclei unwinding activities as well asthe binding and hydrolyzing of any of the four ribo- or deoxyribo-nucleotide triphosphates (NTPs) (PubMed:1537828). Unwinds numerousnucleic acid substrates such as double-stranded (ds) DNA and RNA,DNA:RNA hybrids, DNA and RNA forks composed of either partiallycomplementary DNA duplexes or DNA:RNA hybrids, respectively, andalso DNA and RNA displacement loops (D- and R-loops), triplex-helical DNA (H-DNA) structure and DNA and RNA-based G-quadruplexes(PubMed:20669935, PubMed:21561811, PubMed:24049074). Binds dsDNA,single-stranded DNA (ssDNA), dsRNA, ssRNA and poly(A)-containingRNA (PubMed:9111062, PubMed:10198287). Binds also to circulardsDNA or dsRNA of either linear and/or circular forms andstimulates the relaxation of supercoiled DNAs catalyzed bytopoisomerase TOP2A (PubMed:12711669). Plays a role in DNAreplication at origins of replication and cell cycle progression(PubMed:24990949). Plays a role as a transcriptional coactivatoracting as a bridging factor between polymerase II holoenzyme andtranscription factors or cofactors, such as BRCA1, CREBBP, RELAand SMN1 (PubMed:11149922, PubMed:9323138, PubMed:9662397,PubMed:11038348, PubMed:11416126, PubMed:15355351,PubMed:28221134). Binds to the CDKN2A promoter (PubMed:11038348).Plays several roles in post-transcriptional regulation of geneexpression (PubMed:28221134, PubMed:28355180). In cooperation withNUP98, promotes pre-mRNA alternative splicing activities of asubset of genes (PubMed:11402034, PubMed:16680162,PubMed:28221134, PubMed:28355180). As component of a large PERcomplex, is involved in the negative regulation of 3'transcriptional termination of circadian target genes such as PER1and NR1D1 and the control of the circadian rhythms (Bysimilarity). Acts also as a nuclear resolvase that is able to bindand neutralize harmful massive secondary double-stranded RNAstructures formed by inverted-repeat Alu retrotransposon elementsthat are inserted and transcribed as parts of genes during theprocess of gene transposition (PubMed:28355180). Involved in thepositive regulation of nuclear export of constitutive transportelement (CTE)-containing unspliced mRNA (PubMed:9162007,PubMed:10924507, PubMed:11402034). Component of the coding regiondeterminant (CRD)-mediated complex that promotes cytoplasmic MYCmRNA stability (PubMed:19029303). Plays a role in mRNA translation(PubMed:28355180). Positively regulates translation of selectedmRNAs through its binding to post-transcriptional control element(PCE) in the 5'-untranslated region (UTR) (PubMed:16680162).Involved with LARP6 in the translation stimulation of type Icollagen mRNAs for CO1A1 and CO1A2 through binding of a specificstem-loop structure in their 5'-UTRs (PubMed:22190748). StimulatesLIN28A-dependent mRNA translation probably by facilitatingribonucleoprotein remodeling during the process of translation(PubMed:21247876). Plays also a role as a small interfering(siRNA)-loading factor involved in the RNA-induced silencingcomplex (RISC) loading complex (RLC) assembly, and hence functionsin the RISC-mediated gene silencing process (PubMed:17531811).Binds preferentially to short double-stranded RNA, such as thoseproduced during rotavirus intestinal infection (PubMed:28636595).This interaction may mediate NLRP9 inflammasome activation andtrigger inflammatory response, including IL18 release andpyroptosis (PubMed:28636595). Finally, mediates the attachment ofheterogeneous nuclear ribonucleoproteins (hnRNPs) to actinfilaments in the nucleus (PubMed:11687588).{ECO:0000250|UniProtKB:O70133, ECO:0000269|PubMed:10198287,ECO:0000269|PubMed:10924507, ECO:0000269|PubMed:11038348,ECO:0000269|PubMed:11149922, ECO:0000269|PubMed:11402034,ECO:0000269|PubMed:11416126, ECO:0000269|PubMed:11687588,ECO:0000269|PubMed:12711669, ECO:0000269|PubMed:15355351,ECO:0000269|PubMed:1537828, ECO:0000269|PubMed:16680162,ECO:0000269|PubMed:17531811, ECO:0000269|PubMed:19029303,ECO:0000269|PubMed:20669935, ECO:0000269|PubMed:21247876,ECO:0000269|PubMed:21561811, ECO:0000269|PubMed:22190748,ECO:0000269|PubMed:24049074, ECO:0000269|PubMed:24990949,ECO:0000269|PubMed:25062910, ECO:0000269|PubMed:28221134,ECO:0000269|PubMed:28355180, ECO:0000269|PubMed:28636595,ECO:0000269|PubMed:9111062, ECO:0000269|PubMed:9162007,ECO:0000269|PubMed:9323138, ECO:0000269|PubMed:9662397}. (Microbial infection) Plays a role in HIV-1 replicationand virion infectivity (PubMed:11096080, PubMed:19229320,PubMed:25149208, PubMed:27107641). Enhances HIV-1 transcription byfacilitating the binding of RNA polymerase II holoenzyme to theproviral DNA (PubMed:11096080, PubMed:25149208). Binds (via DRBMdomain 2) to the HIV-1 TAR RNA and stimulates HIV-1 transcriptionof transactivation response element (TAR)-containing mRNAs(PubMed:9892698, PubMed:11096080). Involved also in HIV-1 mRNAsplicing and transport (PubMed:25149208). Positively regulatesHIV-1 gag mRNA translation, through its binding to post-transcriptional control element (PCE) in the 5'-untranslatedregion (UTR) (PubMed:16680162). Binds (via DRBM domains) to a HIV-1 double-stranded RNA region of the primer binding site (PBS)-segment of the 5'-UTR, and hence stimulates DHX9 incorporationinto virions and virion infectivity (PubMed:27107641). Plays alsoa role as a cytosolic viral MyD88-dependent DNA and RNA sensors inplasmacytoid dendritic cells (pDCs), and hence induce antiviralinnate immune responses (PubMed:20696886, PubMed:21957149). Binds(via the OB-fold region) to viral single-stranded DNA unmethylatedC-phosphate-G (CpG) oligonucleotide (PubMed:20696886).{ECO:0000269|PubMed:11096080, ECO:0000269|PubMed:16680162,ECO:0000269|PubMed:19229320, ECO:0000269|PubMed:20696886,ECO:0000269|PubMed:21957149, ECO:0000269|PubMed:25149208,ECO:0000269|PubMed:27107641, ECO:0000269|PubMed:9892698}. | Inhibitory regulator of the Ras-cyclic AMP pathway. |
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 DHX9_RASAL2 |
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 DHX9_RASAL2 |
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 |
DHX9 | CNBP, ARHGDIA, LYAR, RELA, PRMT1, TOP2A, MBD2, BRCA1, JUN, AKAP8L, NXF1, KHDRBS1, SMN1, TBP, GTF2B, GEMIN2, DDX20, GEMIN4, HDLBP, XRCC5, XRCC6, MEPCE, SND1, EWSR1, ACTA1, HNRNPC, H2AFX, PRKDC, PHF1, UBE2I, ABCB1, WRN, UBC, DGCR8, HDAC5, NOP56, TOP1, EIF2AK2, PCNA, SMARCAD1, RAD21, HDGF, MBNL1, SF3A2, HNRNPA1, POLR2A, ACTB, ZMAT3, HEXIM1, DICER1, AGO2, POLD1, CUL3, CUL4A, CUL4B, CUL5, CUL2, CDK2, CUL1, COPS5, DCUN1D1, CAND1, NEDD8, RN7SK, BIRC2, GRK5, PRPF8, SSRP1, SRSF1, EFTUD2, SRSF7, ILF3, U2AF1, SRSF3, RBM8A, HNRNPF, RPL31, ILF2, DDX17, RPL6, RPL37A, RPS6, RPS26, RPS5, RPL5, RPS24, RPL9, ACIN1, RPS11, SRRM2, SRRT, SART1, RPS14, USP39, EIF6, RALY, RPSA, LBR, HIST1H2BB, SON, MVP, EMD, THRAP3, NFIA, TMEM126B, PSEN1, RANBP2, NDUFAF4, VTN, KIF5B, TOMM70A, TIMM9, PPIB, CRK, TRIM55, RHOT2, SUGP2, RAB5B, RRS1, UTP14A, PTRF, GLYR1, HELQ, ESR1, SMURF1, FN1, VCAM1, DDX5, HNRNPK, RBM4, TP63, IL7R, NCL, ADAR, HNRNPU, CTNNB1, PAN2, FBXW4, FBXO46, SRPK3, YWHAQ, FBXO6, TARDBP, PRPF40A, APBB1, C14orf166, RTCB, NELFB, YBX3, DDX1, ABCF1, EIF2B2, EIF2B3, FLII, HNRNPA0, LRRFIP1, MAP2, PSMD8, HNRNPM, IGF2BP3, MAP7, MRE11A, NMT1, PSMD13, QARS, RFC4, RPL26L1, RPL27A, RPL27, RPA1, RPA2, RPA3, WWOX, LGR4, IVNS1ABP, STAU1, MDM2, AURKA, CEP250, SART3, PA2G4, FBXW11, MOV10, CUL7, OBSL1, CCDC8, EZH2, SUZ12, EED, RNF2, L1TD1, PRMT8, RPS6KB2, NTRK1, ABCD3, ALYREF, CDC5L, HSPA5, TXNL1, EIF1, EIF1B, HNRNPR, HSPA4L, NAA15, SNRPD1, SPTAN1, TMOD2, TMOD3, USP7, SCARNA22, PPP1CB, RPL10, MATR3, THOC1, THOC2, THOC7, MACROD1, MCM2, MCM5, SNW1, U2AF2, EGFR, WWP2, ZNF746, OCRL, CYLD, INO80B, TRIM25, RNF168, MTF1 | RASAL2 | YWHAG, SH3KBP1, UBC, LATS2, YWHAB, CSNK1A1, CSNK1E, CTAGE5, TRAF1, USHBP1, CEP128, TMEM17, SHC1, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, CGN, LRFN1, DENND1A, SH3PXD2A, RTKN, SRGAP2, MAST3, EIF4E2, SIPA1L1, PPM1H, LIMA1, MAGI1, DENND4C, TESK2, DCLK1, ZNF638, NF1, HDAC4, CBY1, SRSF12, SYDE1, MAPKAP1, CDC25C, AGAP1, CDC25B, NADK, CDK16, GIGYF2, CAMSAP2, FAM110B, RALGPS2, USP21, KIAA1804, TIAM1, FAM53C, ANKRD34A, PHLDB2, LPIN3, PLEKHA7, KIF1C, INPP5E, TRIM25 |
- 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 DHX9_RASAL2 |
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 DHX9_RASAL2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |