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Fusion gene ID: 30241 |
FusionGeneSummary for RAI1_IGF2BP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAI1_IGF2BP1 | Fusion gene ID: 30241 | Hgene | Tgene | Gene symbol | RAI1 | IGF2BP1 | Gene ID | 10743 | 10642 |
| Gene name | retinoic acid induced 1 | insulin like growth factor 2 mRNA binding protein 1 | |
| Synonyms | SMCR|SMS | CRD-BP|CRDBP|IMP-1|IMP1|VICKZ1|ZBP1 | |
| Cytomap | 17p11.2 | 17q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | retinoic acid-induced protein 1Smith-Magenis syndrome chromosome region | insulin-like growth factor 2 mRNA-binding protein 1IGF-II mRNA-binding protein 1IGF2 mRNA-binding protein 1VICKZ family member 1ZBP-1coding region determinant-binding proteininsulin-like growth factor 2 mRNA binding protein 1 deltaN CRDBPzipcode-bi | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q7Z5J4 | Q9NZI8 | |
| Ensembl transtripts involved in fusion gene | ENST00000353383, ENST00000489697, ENST00000261641, | ENST00000290341, ENST00000431824, ENST00000515586, | |
| Fusion gene scores | * DoF score | 17 X 9 X 11=1683 | 7 X 6 X 3=126 |
| # samples | 18 | 6 | |
| ** MAII score | log2(18/1683*10)=-3.22496636500027 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/126*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RAI1 [Title/Abstract] AND IGF2BP1 [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 | RAI1 | GO:0045893 | positive regulation of transcription, DNA-templated | 22578325 |
| Tgene | IGF2BP1 | GO:0017148 | negative regulation of translation | 9891060 |
| Tgene | IGF2BP1 | GO:0070934 | CRD-mediated mRNA stabilization | 19029303 |
| 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 | BRCA | TCGA-A8-A09Q-01A | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
| * 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 | ENST00000353383 | ENST00000290341 | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
| 5UTR-3CDS | ENST00000353383 | ENST00000431824 | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
| 5UTR-3UTR | ENST00000353383 | ENST00000515586 | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
| intron-3CDS | ENST00000489697 | ENST00000290341 | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
| intron-3CDS | ENST00000489697 | ENST00000431824 | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
| intron-3UTR | ENST00000489697 | ENST00000515586 | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
| intron-3CDS | ENST00000261641 | ENST00000290341 | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
| intron-3CDS | ENST00000261641 | ENST00000431824 | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
| intron-3UTR | ENST00000261641 | ENST00000515586 | RAI1 | chr17 | 17627473 | + | IGF2BP1 | chr17 | 47076471 | + |
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FusionProtFeatures for RAI1_IGF2BP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAI1 | IGF2BP1 |
| Transcriptional regulator of the circadian clockcomponents: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2,NR1D1/2 and RORA/C. Positively regulates the transcriptionalactivity of CLOCK a core component of the circadian clock.Regulates transcription through chromatin remodeling byinteracting with other proteins in chromatin as well as proteinsin the basic transcriptional machinery. May be important forembryonic and postnatal development. May be involved in neuronaldifferentiation. {ECO:0000269|PubMed:22578325}. | RNA-binding factor that recruits target transcripts tocytoplasmic protein-RNA complexes (mRNPs). This transcript'caging' into mRNPs allows mRNA transport and transient storage.It also modulates the rate and location at which targettranscripts encounter the translational apparatus and shields themfrom endonuclease attacks or microRNA-mediated degradation. Playsa direct role in the transport and translation of transcriptsrequired for axonal regeneration in adult sensory neurons (Bysimilarity). Regulates localized beta-actin/ACTB mRNA translation,a crucial process for cell polarity, cell migration and neuriteoutgrowth. Co-transcriptionally associates with the ACTB mRNA inthe nucleus. This binding involves a conserved 54-nucleotideelement in the ACTB mRNA 3'-UTR, known as the 'zipcode'. The RNPthus formed is exported to the cytoplasm, binds to a motor proteinand is transported along the cytoskeleton to the cell periphery.During transport, prevents ACTB mRNA from being translated intoprotein. When the RNP complex reaches its destination near theplasma membrane, IGF2BP1 is phosphorylated. This releases themRNA, allowing ribosomal 40S and 60S subunits to assemble andinitiate ACTB protein synthesis. Monomeric ACTB then assemblesinto the subcortical actin cytoskeleton (By similarity). Duringneuronal development, key regulator of neurite outgrowth, growthcone guidance and neuronal cell migration, presumably through thespatiotemporal fine tuning of protein synthesis, such as that ofACTB (By similarity). May regulate mRNA transport to activatedsynapses (By similarity). Binds to and stabilizes ABCB1/MDR-1 mRNA(By similarity). During interstinal wound repair, interacts withand stabilizes PTGS2 transcript. PTGS2 mRNA stabilization may becrucial for colonic mucosal wound healing (By similarity). Bindsto the 3'-UTR of IGF2 mRNA by a mechanism of cooperative andsequential dimerization and regulates IGF2 mRNA subcellularlocalization and translation. Binds to MYC mRNA, in the codingregion instability determinant (CRD) of the open reading frame(ORF), hence prevents MYC cleavage by endonucleases and possiblymicroRNA targeting to MYC-CRD. Binds to the 3'-UTR of CD44 mRNAand stabilizes it, hence promotes cell adhesion and invadopodiaformation in cancer cells. Binds to the oncofetal H19 transcriptand to the neuron-specific TAU mRNA and regulates theirlocalizations. Binds to and stabilizes BTRC/FBW1A mRNA. Binds tothe adenine-rich autoregulatory sequence (ARS) located in PABPC1mRNA and represses its translation. PABPC1 mRNA-binding isstimulated by PABPC1 protein. Prevents BTRC/FBW1A mRNA degradationby disrupting microRNA-dependent interaction with AGO2. Promotesthe directed movement of tumor-derived cells by fine-tuningintracellular signaling networks. Binds to MAPK4 3'-UTR andinhibits its translation. Interacts with PTEN transcript openreading frame (ORF) and prevents mRNA decay. This combined actionon MAPK4 (down-regulation) and PTEN (up-regulation) antagonizesHSPB1 phosphorylation, consequently it prevents G-actinsequestration by phosphorylated HSPB1, allowing F-actinpolymerization. Hence enhances the velocity of cell migration andstimulates directed cell migration by PTEN-modulated polarization.Interacts with Hepatitis C virus (HCV) 5'-UTR and 3'-UTR andspecifically enhances translation at the HCV IRES, but not 5'-cap-dependent translation, possibly by recruiting eIF3. Interacts withHIV-1 GAG protein and blocks the formation of infectious HIV-1particles. Reduces HIV-1 assembly by inhibiting viral RNApackaging, as well as assembly and processing of GAG protein oncellular membranes. During cellular stress, such as oxidativestress or heat shock, stabilizes target mRNAs that are recruitedto stress granules, including CD44, IGF2, MAPK4, MYC, PTEN,RAPGEF2 and RPS6KA5 transcripts. {ECO:0000250,ECO:0000269|PubMed:10875929, ECO:0000269|PubMed:16356927,ECO:0000269|PubMed:16541107, ECO:0000269|PubMed:16778892,ECO:0000269|PubMed:17101699, ECO:0000269|PubMed:17255263,ECO:0000269|PubMed:17893325, ECO:0000269|PubMed:18385235,ECO:0000269|PubMed:19029303, ECO:0000269|PubMed:19541769,ECO:0000269|PubMed:19647520, ECO:0000269|PubMed:20080952,ECO:0000269|PubMed:22279049, ECO:0000269|PubMed:8132663,ECO:0000269|PubMed:9891060}. |
| 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 RAI1_IGF2BP1 |
| 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 RAI1_IGF2BP1 |
| 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 |
| RAI1 | PIN1, TESC, DDIT3, GATA1, GLI1, LZTR1, MAML3, ZNF496, MAPK8IP2, GSK3B, CASP2, RPS6KA5, CDKN1A, TTR, GADD45A, SIRT7, HECW2, HIST1H2BG, DAXX, TCF20, CDK2AP1, HMG20A, NAGK, NR3C1, AR | IGF2BP1 | CNBP, PUF60, PRKRA, GSK3B, ARHGDIA, SMYD2, ILK, MEPCE, HNRNPA1, RPAP1, KHDRBS2, CDK9, TP53, TP63, TP73, MYC, AGO4, HDAC5, NOP56, ARRB2, BTRC, CUL3, CUL4A, CUL4B, CUL5, CUL2, CUL1, COPS5, CAND1, NEDD8, BIRC2, SYNCRIP, FN1, VCAM1, IFIT1, GRB2, ITGA4, CBX6, CBX8, PAN2, BAG3, FBXO6, PARK2, WWOX, IVNS1ABP, STAU1, AURKA, CDKN1A, CEP250, HAUS2, TUBGCP2, TUBGCP3, TUBGCP4, MOV10, NXF1, CUL7, OBSL1, CCDC8, RPS6KB2, IGF2BP2, IGF2BP3, RAB2A, RPL37A, XPO1, HNRNPU, MKRN1, ELAVL1, NF2, ZNF746, ELAVL4, ELAVL2, RRS1, MRPS34, GSPT2, NCL, TRIM25, G3BP1, UBE2S, MTF1 |
| - 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 RAI1_IGF2BP1 |
| 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 RAI1_IGF2BP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RAI1 | C0795864 | Smith-Magenis syndrome | 12 | CTD_human;ORPHANET |
| Hgene | RAI1 | C0028754 | Obesity | 2 | CTD_human;HPO |
| Hgene | RAI1 | C0003469 | Anxiety Disorders | 1 | CTD_human |
| Hgene | RAI1 | C0018273 | Growth Disorders | 1 | CTD_human |
| Hgene | RAI1 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | RAI1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | RAI1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | RAI1 | C0525041 | Neurobehavioral Manifestations | 1 | CTD_human |
| Hgene | RAI1 | C0700201 | Dyssomnias | 1 | CTD_human |
| Hgene | RAI1 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
| Hgene | RAI1 | C1970482 | Potocki-Lupski syndrome | 1 | CTD_human |
| Hgene | RAI1 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
| Hgene | RAI1 | C3887612 | Psychomotor Agitation | 1 | CTD_human |
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