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Fusion gene ID: 17698 |
FusionGeneSummary for IQSEC1_DDX3X |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IQSEC1_DDX3X | Fusion gene ID: 17698 | Hgene | Tgene | Gene symbol | IQSEC1 | DDX3X | Gene ID | 9922 | 1654 |
| Gene name | IQ motif and Sec7 domain 1 | DEAD-box helicase 3 X-linked | |
| Synonyms | ARF-GEP100|ARFGEP100|BRAG2|GEP100 | CAP-Rf|DBX|DDX14|DDX3|HLP2|MRX102 | |
| Cytomap | 3p25.2-p25.1 | Xp11.4 | |
| Type of gene | protein-coding | protein-coding | |
| Description | IQ motif and SEC7 domain-containing protein 1ADP-ribosylation factors guanine nucleotide-exchange protein 100ADP-ribosylation factors guanine nucleotide-exchange protein 2brefeldin A-resistant ARF-GEF2brefeldin-resistant Arf-GEF 2 protein | ATP-dependent RNA helicase DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedDEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linkedDEAD box protein 3, X-chromosomalDEAD box, X isoformDEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3DEAD/H box-3helicase- | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q6DN90 | O00571 | |
| Ensembl transtripts involved in fusion gene | ENST00000273221, ENST00000473088, | ENST00000399959, ENST00000478993, ENST00000457138, ENST00000441189, ENST00000542215, | |
| Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 5 X 5 X 3=75 |
| # samples | 7 | 5 | |
| ** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IQSEC1 [Title/Abstract] AND DDX3X [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 | DDX3X | GO:0009615 | response to virus | 18636090 |
| Tgene | DDX3X | GO:0010501 | RNA secondary structure unwinding | 22872150 |
| Tgene | DDX3X | GO:0010628 | positive regulation of gene expression | 10074132 |
| Tgene | DDX3X | GO:0030308 | negative regulation of cell growth | 16818630 |
| Tgene | DDX3X | GO:0031333 | negative regulation of protein complex assembly | 17667941 |
| Tgene | DDX3X | GO:0034063 | stress granule assembly | 21883093 |
| Tgene | DDX3X | GO:0035556 | intracellular signal transduction | 18636090 |
| Tgene | DDX3X | GO:0045727 | positive regulation of translation | 18596238|22872150 |
| Tgene | DDX3X | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16818630|18636090 |
| Tgene | DDX3X | GO:0071243 | cellular response to arsenic-containing substance | 21883093 |
| Tgene | DDX3X | GO:0071470 | cellular response to osmotic stress | 21883093 |
| Tgene | DDX3X | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 23413191 |
| 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 | CD674186 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| * 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 | ENST00000273221 | ENST00000399959 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| intron-intron | ENST00000273221 | ENST00000478993 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| intron-intron | ENST00000273221 | ENST00000457138 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| intron-intron | ENST00000273221 | ENST00000441189 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| intron-intron | ENST00000273221 | ENST00000542215 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| intron-intron | ENST00000473088 | ENST00000399959 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| intron-intron | ENST00000473088 | ENST00000478993 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| intron-intron | ENST00000473088 | ENST00000457138 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| intron-intron | ENST00000473088 | ENST00000441189 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
| intron-intron | ENST00000473088 | ENST00000542215 | IQSEC1 | chr3 | 12978732 | - | DDX3X | chrX | 41200519 | + |
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FusionProtFeatures for IQSEC1_DDX3X |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IQSEC1 | DDX3X |
| Guanine nucleotide exchange factor for ARF1 and ARF6(PubMed:24058294). Guanine nucleotide exchange factor activity isenhanced by lipid binding (PubMed:24058294). Accelerates GTPbinding by ARFs of all three classes. Guanine nucleotide exchangeprotein for ARF6, mediating internalisation of beta-1 integrin.{ECO:0000269|PubMed:11226253, ECO:0000269|PubMed:16461286,ECO:0000269|PubMed:24058294}. | Multifunctional ATP-dependent RNA helicase. The ATPaseactivity can be stimulated by various ribo- and deoxynucleic acidsindicative for a relaxed substrate specificity. In vitro canunwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs. Is involved in several steps ofgene expression, such as transcription, mRNA maturation, mRNAexport and translation. However, the exact mechanisms are notknown and some functions may be specific for a subset of mRNAs.Involved in transcriptional regulation. Can enhance transcriptionfrom the CDKN1A/WAF1 promoter in a SP1-dependent manner. Foundassociated with the E-cadherin promoter and can down-regulatetranscription from the promoter. Involved in regulation oftranslation initiation. Proposed to be involved in positiveregulation of translation such as of cyclin E1/CCNE1 mRNA andspecifically of mRNAs containing complex secondary structures intheir 5'UTRs; these functions seem to require RNA helicaseactivity. Specifically promotes translation of a subset of viraland cellular mRNAs carrying a 5'proximal stem-loop structure intheir 5'UTRs and cooperates with the eIF4F complex. Proposed toact prior to 43S ribosomal scanning and to locally destabilizethese RNA structures to allow recognition of the mRNA cap orloading onto the 40S subunit. After association with 40S ribosomalsubunits seems to be involved in the functional assembly of 80Sribosomes; the function seems to cover translation of mRNAs withstructured and non-structured 5'UTRs and is independent of RNAhelicase activity. Also proposed to inhibit cap-dependenttranslation by competetive interaction with EIF4E which can blockthe EIF4E:EIF4G complex formation. Proposed to be involved instress response and stress granule assembly; the function isindependent of RNA helicase activity and seems to involveassociation with EIF4E. May be involved in nuclear export ofspecific mRNAs but not in bulk mRNA export via interactions withXPO1 and NXF1. Also associates with polyadenylated mRNAsindependently of NXF1. Associates with spliced mRNAs in an exonjunction complex (EJC)-dependent manner and seems not to bedirectly involved in splicing. May be involved in nuclear mRNAexport by association with DDX5 and regulating its nuclearlocation. Involved in innate immune signaling promoting theproduction of type I interferon (IFN-alpha and IFN-beta); proposedto act as viral RNA sensor, signaling intermediate andtranscriptional coactivator. Involved in TBK1 and IKBKE-dependentIRF3 activation leading to IFNB induction, plays a role ofscaffolding adapter that links IKBKE and IRF3 and coordinatestheir activation. Also found associated with IFNB promoters; thefunction is independent of IRF3. Can bind to viral RNAs and viaassociation with MAVS/IPS1 and DDX58/RIG-I is thought to inducesignaling in early stages of infection. Involved in regulation ofapoptosis. May be required for activation of the intrinsic butinhibit activation of the extrinsic apoptotic pathway. Acts as anantiapoptotic protein through association with GSK3A/B and BIRC2in an apoptosis antagonizing signaling complex; activation ofdeath receptors promotes caspase-dependent cleavage of BIRC2 andDDX3X and relieves the inhibition. May be involved in mitoticchromosome segregation. Is an allosteric activator of CSNK1E, itstimulates CSNK1E-mediated phosphorylation of DVL2 and is involvedin the positive regulation of canonical Wnt signaling(PubMed:23413191). {ECO:0000269|PubMed:16301996,ECO:0000269|PubMed:16818630, ECO:0000269|PubMed:17357160,ECO:0000269|PubMed:17667941, ECO:0000269|PubMed:18264132,ECO:0000269|PubMed:18583960, ECO:0000269|PubMed:18596238,ECO:0000269|PubMed:18628297, ECO:0000269|PubMed:18636090,ECO:0000269|PubMed:18846110, ECO:0000269|PubMed:20127681,ECO:0000269|PubMed:20375222, ECO:0000269|PubMed:20657822,ECO:0000269|PubMed:20837705, ECO:0000269|PubMed:21170385,ECO:0000269|PubMed:21730191, ECO:0000269|PubMed:21883093,ECO:0000269|PubMed:22034099, ECO:0000269|PubMed:22323517,ECO:0000269|PubMed:22872150, ECO:0000269|PubMed:23413191,ECO:0000269|PubMed:23478265}. (Microbial infection) Appears to be a prime target forviral manipulations. Hepatitis B virus (HBV) polymerase andpossibly vaccinia virus (VACV) protein K7 inhibit IFNB inductionprobably by dissociating DDX3X from TBK1 or IKBKE. Is involved inhepatitis C virus (HCV) replication; the function may involve theassociation with HCV core protein. HCV core protein inhibits theIPS1-dependent function in viral RNA sensing and may switch thefunction from a INFB inducing to a HCV replication mode. Involvedin HIV-1 replication. Acts as a cofactor for XPO1-mediated nuclearexport of incompletely spliced HIV-1 Rev RNAs.{ECO:0000269|PubMed:10329544, ECO:0000269|PubMed:15507209,ECO:0000269|PubMed:21589879}. |
| 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 IQSEC1_DDX3X |
| 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 IQSEC1_DDX3X |
| 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 IQSEC1_DDX3X |
| 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 IQSEC1_DDX3X |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DDX3X | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | DDX3X | C0079772 | T-Cell Lymphoma | 1 | CTD_human |
| Tgene | DDX3X | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | DDX3X | C4085582 | MENTAL RETARDATION, X-LINKED 102 | 1 | ORPHANET;UNIPROT |
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