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Fusion gene ID: 17166 |
FusionGeneSummary for IGF2R_QKI |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IGF2R_QKI | Fusion gene ID: 17166 | Hgene | Tgene | Gene symbol | IGF2R | QKI | Gene ID | 3482 | 9444 |
| Gene name | insulin like growth factor 2 receptor | QKI, KH domain containing RNA binding | |
| Synonyms | CD222|CI-M6PR|CIMPR|M6P-R|M6P/IGF2R|MPR 300|MPR1|MPR300|MPRI | Hqk|QK|QK1|QK3|hqkI | |
| Cytomap | 6q25.3 | 6q26 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cation-independent mannose-6-phosphate receptor300 kDa mannose 6-phosphate receptorCI Man-6-P receptorIGF-II receptorM6P/IGF2 receptorinsulin-like growth factor II receptor | protein quakingQKI/LOC100132735 fusionRNA binding protein HQKhomolog of mouse quaking QKI (KH domain RNA binding protein)quaking homolog, KH domain RNA binding | |
| Modification date | 20180527 | 20180522 | |
| UniProtAcc | P11717 | Q96PU8 | |
| Ensembl transtripts involved in fusion gene | ENST00000356956, ENST00000475584, | ENST00000275262, ENST00000392127, ENST00000453779, ENST00000361752, ENST00000361195, ENST00000424802, | |
| Fusion gene scores | * DoF score | 7 X 6 X 6=252 | 13 X 14 X 6=1092 |
| # samples | 6 | 18 | |
| ** MAII score | log2(6/252*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/1092*10)=-2.60090404459018 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IGF2R [Title/Abstract] AND QKI [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | 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 |
| 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 | SKCM | TCGA-EE-A29G-06A | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| * 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 | ENST00000356956 | ENST00000275262 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| Frame-shift | ENST00000356956 | ENST00000392127 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| Frame-shift | ENST00000356956 | ENST00000453779 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| Frame-shift | ENST00000356956 | ENST00000361752 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| Frame-shift | ENST00000356956 | ENST00000361195 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| Frame-shift | ENST00000356956 | ENST00000424802 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| intron-3CDS | ENST00000475584 | ENST00000275262 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| intron-3CDS | ENST00000475584 | ENST00000392127 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| intron-3CDS | ENST00000475584 | ENST00000453779 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| intron-3CDS | ENST00000475584 | ENST00000361752 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| intron-3CDS | ENST00000475584 | ENST00000361195 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
| intron-3CDS | ENST00000475584 | ENST00000424802 | IGF2R | chr6 | 160511135 | + | QKI | chr6 | 163956014 | + |
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FusionProtFeatures for IGF2R_QKI |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IGF2R | QKI |
| Transport of phosphorylated lysosomal enzymes from theGolgi complex and the cell surface to lysosomes. Lysosomal enzymesbearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resultingreceptor-ligand complex is transported to an acidic prelyosomalcompartment where the low pH mediates the dissociation of thecomplex. This receptor also binds IGF2. Acts as a positiveregulator of T-cell coactivation, by binding DPP4.{ECO:0000269|PubMed:10900005}. |
| 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 IGF2R_QKI |
| 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 IGF2R_QKI |
| 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 |
| IGF2R | CREG1, PLIN3, PLAUR, USP50, ELAVL1, MYC, SIRT7, GGA2, GGA3, GGA1, CSNK2A1, FBXO6, TM9SF4, COA7, SERINC1, TIMM10B, ATXN1, FN1, CCDC8, ABCE1, EWSR1, TMEM17, TMEM216, RAB5C, XRCC5, GTSE1, CHMP4B, CDH1, PPM1H, NCDN, TRIM25 | QKI | HNRNPK, USP30, MED12, MED13, MED25, MED16, MED17, MED1, MED24, MED23, MED4, MED29, MED31, MED15, MED14, MED26, MED10, POLR2A, MED27, ELAVL1, PSMF1, C10orf10, FUBP3, HCLS1, PCBP2, PTBP1, PTBP2, RBM14, RBFOX2, RBPMS, RNF138, SERF2, THAP1, USH1C, RBFOX1, PCBP1, PCBP4, APP, NDUFA7, CDV3, ATXN1, FN1, U2AF2, RBM23, RALY, WDR77, HNRNPH2, QKI, DAZ1, IL7R, CARM1, SNRPA, RBM11, NABP1, HNRNPLL, OIP5, RBMX, ZACN, CYP1A1, NTRK1, EWSR1, HYPK, DUSP22, DUSP4, ATE1, RBM42, FBXW11, SLC39A12, VAC14, TRIM11, SYNCRIP, SNRNP27 |
| - 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 IGF2R_QKI |
| 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 |
| Hgene | IGF2R | P11717 | DB01277 | Mecasermin | Cation-independent mannose-6-phosphate receptor | biotech | approved|investigational |
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RelatedDiseases for IGF2R_QKI |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IGF2R | C0024115 | Lung diseases | 2 | CTD_human |
| Hgene | IGF2R | C0235833 | Congenital diaphragmatic hernia | 2 | CTD_human |
| Hgene | IGF2R | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Hgene | IGF2R | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | IGF2R | C0030567 | Parkinson Disease | 1 | CTD_human |
| Hgene | IGF2R | C0752347 | Lewy Body Disease | 1 | CTD_human |
| Hgene | IGF2R | C2239176 | Liver carcinoma | 1 | CTD_human;HPO |
| Tgene | QKI | C0036341 | Schizophrenia | 5 | PSYGENET |
| Tgene | QKI | C0017638 | Glioma | 1 | CTD_human |
| Tgene | QKI | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | QKI | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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