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Fusion gene ID: 17535 |
FusionGeneSummary for INS-IGF2_GSK3B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: INS-IGF2_GSK3B | Fusion gene ID: 17535 | Hgene | Tgene | Gene symbol | INS-IGF2 | GSK3B | Gene ID | 723961 | 2932 |
| Gene name | INS-IGF2 readthrough | glycogen synthase kinase 3 beta | |
| Synonyms | INSIGF | - | |
| Cytomap | 11p15.5 | 3q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | insulin, isoform 2INS-IGF2 readthrough transcript proteininsulin- insulin-like growth factor 2 read-through product | glycogen synthase kinase-3 betaGSK-3 betaGSK3beta isoformserine/threonine-protein kinase GSK3B | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | F8WCM5 | P49841 | |
| Ensembl transtripts involved in fusion gene | ENST00000481781, ENST00000397270, | ENST00000264235, ENST00000316626, ENST00000473886, | |
| Fusion gene scores | * DoF score | 22 X 31 X 1=682 | 2 X 2 X 1=4 |
| # samples | 33 | 2 | |
| ** MAII score | log2(33/682*10)=-1.04730571477836 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: INS-IGF2 [Title/Abstract] AND GSK3B [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 | GSK3B | GO:0005977 | glycogen metabolic process | 8638126 |
| Tgene | GSK3B | GO:0006468 | protein phosphorylation | 11035810|16315267|20937854 |
| Tgene | GSK3B | GO:0006983 | ER overload response | 14744935 |
| Tgene | GSK3B | GO:0018105 | peptidyl-serine phosphorylation | 8638126|11104755|11955436|14744935|17139249 |
| Tgene | GSK3B | GO:0018107 | peptidyl-threonine phosphorylation | 11955436|17139249|25897075 |
| Tgene | GSK3B | GO:0031175 | neuron projection development | 19830702 |
| Tgene | GSK3B | GO:0031334 | positive regulation of protein complex assembly | 8638126 |
| Tgene | GSK3B | GO:0032091 | negative regulation of protein binding | 16890161 |
| Tgene | GSK3B | GO:0035556 | intracellular signal transduction | 14749367 |
| Tgene | GSK3B | GO:0043066 | negative regulation of apoptotic process | 14744935 |
| Tgene | GSK3B | GO:0046777 | protein autophosphorylation | 23184662 |
| Tgene | GSK3B | GO:0046827 | positive regulation of protein export from nucleus | 14744935 |
| Tgene | GSK3B | GO:0060070 | canonical Wnt signaling pathway | 18787224 |
| Tgene | GSK3B | GO:1901215 | negative regulation of neuron death | 19830702 |
| Tgene | GSK3B | GO:1901216 | positive regulation of neuron death | 18508033 |
| 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 | CK819498 | INS-IGF2 | chr11 | 2181059 | + | GSK3B | chr3 | 119542156 | + |
| * 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-3UTR | ENST00000481781 | ENST00000264235 | INS-IGF2 | chr11 | 2181059 | + | GSK3B | chr3 | 119542156 | + |
| intron-intron | ENST00000481781 | ENST00000316626 | INS-IGF2 | chr11 | 2181059 | + | GSK3B | chr3 | 119542156 | + |
| intron-intron | ENST00000481781 | ENST00000473886 | INS-IGF2 | chr11 | 2181059 | + | GSK3B | chr3 | 119542156 | + |
| intron-3UTR | ENST00000397270 | ENST00000264235 | INS-IGF2 | chr11 | 2181059 | + | GSK3B | chr3 | 119542156 | + |
| intron-intron | ENST00000397270 | ENST00000316626 | INS-IGF2 | chr11 | 2181059 | + | GSK3B | chr3 | 119542156 | + |
| intron-intron | ENST00000397270 | ENST00000473886 | INS-IGF2 | chr11 | 2181059 | + | GSK3B | chr3 | 119542156 | + |
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FusionProtFeatures for INS-IGF2_GSK3B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| INS-IGF2 | GSK3B |
| Constitutively active protein kinase that acts as anegative regulator in the hormonal control of glucose homeostasis,Wnt signaling and regulation of transcription factors andmicrotubules, by phosphorylating and inactivating glycogensynthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1,DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requiresprimed phosphorylation of the majority of its substrates. Inskeletal muscle, contributes to insulin regulation of glycogensynthesis by phosphorylating and inhibiting GYS1 activity andhence glycogen synthesis. May also mediate the development ofinsulin resistance by regulating activation of transcriptionfactors. Regulates protein synthesis by controlling the activityof initiation factor 2B (EIF2BE/EIF2B5) in the same manner asglycogen synthase. In Wnt signaling, GSK3B forms a multimericcomplex with APC, AXIN1 and CTNNB1/beta-catenin and phosphorylatesthe N-terminus of CTNNB1 leading to its degradation mediated byubiquitin/proteasomes. Phosphorylates JUN at sites proximal to itsDNA-binding domain, thereby reducing its affinity for DNA.Phosphorylates NFATC1/NFATC on conserved serine residues promotingNFATC1/NFATC nuclear export, shutting off NFATC1/NFATC generegulation, and thereby opposing the action of calcineurin.Phosphorylates MAPT/TAU on 'Thr-548', decreasing significantlyMAPT/TAU ability to bind and stabilize microtubules. MAPT/TAU isthe principal component of neurofibrillary tangles in Alzheimerdisease. Plays an important role in ERBB2-dependent stabilizationof microtubules at the cell cortex. Phosphorylates MACF1,inhibiting its binding to microtubules which is critical for itsrole in bulge stem cell migration and skin wound repair. Probablyregulates NF-kappa-B (NFKB1) at the transcriptional level and isrequired for the NF-kappa-B-mediated anti-apoptotic response toTNF-alpha (TNF/TNFA). Negatively regulates replication inpancreatic beta-cells, resulting in apoptosis, loss of beta-cellsand diabetes. Through phosphorylation of the anti-apoptoticprotein MCL1, may control cell apoptosis in response to growthfactors deprivation. Phosphorylates MUC1 in breast cancer cells,decreasing the interaction of MUC1 with CTNNB1/beta-catenin. Isnecessary for the establishment of neuronal polarity and axonoutgrowth. Phosphorylates MARK2, leading to inhibit its activity.Phosphorylates SIK1 at 'Thr-182', leading to sustain its activity.Phosphorylates ZC3HAV1 which enhances its antiviral activity.Phosphorylates SNAI1, leading to its BTRC-triggered ubiquitinationand proteasomal degradation. Phosphorylates SFPQ at 'Thr-687' uponT-cell activation. Phosphorylates NR1D1 st 'Ser-55' and 'Ser-59'and stabilizes it by protecting it from proteasomal degradation.Regulates the circadian clock via phosphorylation of the majorclock components including ARNTL/BMAL1, CLOCK and PER2.Phosphorylates CLOCK AT 'Ser-427' and targets it for proteasomaldegradation. Phosphorylates ARNTL/BMAL1 at 'Ser-17' and 'Ser-21'and primes it for ubiquitination and proteasomal degradation.Phosphorylates OGT at 'Ser-3' or 'Ser-4' which positivelyregulates its activity. Phosphorylates MYCN in neuroblastoma cellswhich may promote its degradation (PubMed:24391509).{ECO:0000269|PubMed:11430833, ECO:0000269|PubMed:12554650,ECO:0000269|PubMed:14690523, ECO:0000269|PubMed:15448698,ECO:0000269|PubMed:15647282, ECO:0000269|PubMed:16484495,ECO:0000269|PubMed:18348280, ECO:0000269|PubMed:1846781,ECO:0000269|PubMed:19946213, ECO:0000269|PubMed:20932480,ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:22514281,ECO:0000269|PubMed:24391509, ECO:0000269|PubMed:8397507,ECO:0000269|PubMed:9072970, ECO:0000269|PubMed:9819408}. |
| 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 INS-IGF2_GSK3B |
| 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 INS-IGF2_GSK3B |
| 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 INS-IGF2_GSK3B |
| 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 |
| Tgene | GSK3B | P49841 | DB01356 | Lithium | Glycogen synthase kinase-3 beta | small molecule | approved |
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RelatedDiseases for INS-IGF2_GSK3B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GSK3B | C0005586 | Bipolar Disorder | 6 | CTD_human;PSYGENET |
| Tgene | GSK3B | C0011581 | Depressive disorder | 5 | CTD_human;PSYGENET |
| Tgene | GSK3B | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
| Tgene | GSK3B | C0011570 | Mental Depression | 3 | PSYGENET |
| Tgene | GSK3B | C0002395 | Alzheimer's Disease | 2 | CTD_human |
| Tgene | GSK3B | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Tgene | GSK3B | C0525045 | Mood Disorders | 2 | PSYGENET |
| Tgene | GSK3B | C0018800 | Cardiomegaly | 1 | CTD_human |
| Tgene | GSK3B | C0018801 | Heart failure | 1 | CTD_human |
| Tgene | GSK3B | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | GSK3B | C0026846 | Muscular Atrophy | 1 | CTD_human |
| Tgene | GSK3B | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Tgene | GSK3B | C0031154 | Peritonitis | 1 | CTD_human |
| Tgene | GSK3B | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | GSK3B | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 1 | CTD_human |
| Tgene | GSK3B | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| Tgene | GSK3B | C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | 1 | CTD_human |
| Tgene | GSK3B | C2609414 | Acute kidney injury | 1 | CTD_human |
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