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Fusion gene ID: 29033 |
FusionGeneSummary for PRX_IGF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRX_IGF2 | Fusion gene ID: 29033 | Hgene | Tgene | Gene symbol | PRX | IGF2 | Gene ID | 57716 | 3481 |
| Gene name | periaxin | insulin like growth factor 2 | |
| Synonyms | CMT4F | C11orf43|GRDF|IGF-II|PP9974 | |
| Cytomap | 19q13.2 | 11p15.5 | |
| Type of gene | protein-coding | protein-coding | |
| Description | periaxin | insulin-like growth factor IIT3M-11-derived growth factorinsulin-like growth factor 2 (somatomedin A)insulin-like growth factor type 2preptin | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9BXM0 | P01344 | |
| Ensembl transtripts involved in fusion gene | ENST00000291825, ENST00000324001, ENST00000599513, | ENST00000381395, ENST00000381406, ENST00000416167, ENST00000300632, ENST00000434045, ENST00000381392, ENST00000381389, ENST00000418738, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 23 X 24 X 8=4416 |
| # samples | 2 | 20 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(20/4416*10)=-4.46466826700344 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PRX [Title/Abstract] AND IGF2 [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 | IGF2 | GO:0008284 | positive regulation of cell proliferation | 28873464 |
| Tgene | IGF2 | GO:0042104 | positive regulation of activated T cell proliferation | 15694994 |
| Tgene | IGF2 | GO:0043410 | positive regulation of MAPK cascade | 11500939 |
| Tgene | IGF2 | GO:0045840 | positive regulation of mitotic nuclear division | 11500939 |
| Tgene | IGF2 | GO:0046628 | positive regulation of insulin receptor signaling pathway | 11500939 |
| Tgene | IGF2 | GO:0051897 | positive regulation of protein kinase B signaling | 11500939 |
| 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 | UCS | TCGA-NA-A5I1-01A | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| * 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 | ENST00000291825 | ENST00000381395 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000291825 | ENST00000381406 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000291825 | ENST00000416167 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000291825 | ENST00000300632 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000291825 | ENST00000434045 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000291825 | ENST00000381392 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000291825 | ENST00000381389 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000291825 | ENST00000418738 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000324001 | ENST00000381395 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000324001 | ENST00000381406 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000324001 | ENST00000416167 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000324001 | ENST00000300632 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000324001 | ENST00000434045 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000324001 | ENST00000381392 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000324001 | ENST00000381389 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000324001 | ENST00000418738 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000599513 | ENST00000381395 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000599513 | ENST00000381406 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000599513 | ENST00000416167 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-3UTR | ENST00000599513 | ENST00000300632 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000599513 | ENST00000434045 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000599513 | ENST00000381392 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000599513 | ENST00000381389 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
| intron-intron | ENST00000599513 | ENST00000418738 | PRX | chr19 | 40903240 | - | IGF2 | chr11 | 2150724 | - |
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FusionProtFeatures for PRX_IGF2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PRX | IGF2 |
| Scaffolding protein that functions as part of adystroglycan complex in Schwann cells, and as part of EZR andAHNAK-containing complexes in eye lens fiber cells. Required forthe maintenance of the peripheral myelin sheath that is essentialfor normal transmission of nerve impulses and normal perception ofsensory stimuli. Required for normal transport of MBP mRNA fromthe perinuclear to the paranodal regions. Required for normalremyelination after nerve injury. Required for normal elongationof Schwann cells and normal length of the internodes between thenodes of Ranvier. The demyelinated nodes of Ranvier permitsaltatory transmission of nerve impulses; shorter internodes causeslower transmission of nerve impulses. Required for the formationof appositions between the abaxonal surface of the myelin sheathand the Schwann cell plasma membrane; the Schwann cell cytoplasmis restricted to regions between these appositions. Required forthe formation of Cajal bands and of Schmidt-Lanterman incisuresthat correspond to short, cytoplasm-filled regions on myelinatednerves. Recruits DRP2 to the Schwann cell plasma membrane.Required for normal protein composition of the eye lens fiber cellplasma membrane and normal eye lens fiber cell morphology.{ECO:0000250|UniProtKB:O55103}. |
| 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 PRX_IGF2 |
| 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 PRX_IGF2 |
| 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 |
| PRX | EZR, DRP2, DAG1, PRX, TERF2IP, CDK6 | IGF2 | NOV, IGFBP7, IGFBP1, TF, IGFBP3, VTN, IDE, IGFBP6, IGFBP4, IGFBP5, BAG6, NMRK2, FAF1, PCSK4, RBPMS |
| - 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 PRX_IGF2 |
| 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 PRX_IGF2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PRX | C3540453 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F | 1 | ORPHANET;UNIPROT |
| Tgene | IGF2 | C0004903 | Beckwith-Wiedemann Syndrome | 2 | CTD_human |
| Tgene | IGF2 | C0015934 | Fetal Growth Retardation | 2 | CTD_human;HPO |
| Tgene | IGF2 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | IGF2 | C0206686 | Adrenocortical carcinoma | 2 | CTD_human;HPO |
| Tgene | IGF2 | C2239176 | Liver carcinoma | 2 | CTD_human;HPO |
| Tgene | IGF2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | IGF2 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Tgene | IGF2 | C0002871 | Anemia | 1 | CTD_human |
| Tgene | IGF2 | C0004153 | Atherosclerosis | 1 | CTD_human |
| Tgene | IGF2 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | IGF2 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| Tgene | IGF2 | C0009241 | Cognition Disorders | 1 | CTD_human |
| Tgene | IGF2 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | IGF2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | IGF2 | C0018273 | Growth Disorders | 1 | CTD_human |
| Tgene | IGF2 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Tgene | IGF2 | C0020224 | Polyhydramnios | 1 | CTD_human |
| Tgene | IGF2 | C0020615 | Hypoglycemia | 1 | CTD_human |
| Tgene | IGF2 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | IGF2 | C0025261 | Memory Disorders | 1 | CTD_human |
| Tgene | IGF2 | C0027708 | Nephroblastoma | 1 | CTD_human;HPO |
| Tgene | IGF2 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| Tgene | IGF2 | C0028754 | Obesity | 1 | CTD_human |
| Tgene | IGF2 | C0030567 | Parkinson Disease | 1 | CTD_human |
| Tgene | IGF2 | C0032045 | Placenta Disorders | 1 | CTD_human |
| Tgene | IGF2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Tgene | IGF2 | C0035412 | Rhabdomyosarcoma | 1 | CTD_human |
| Tgene | IGF2 | C0175693 | Russell-Silver syndrome | 1 | CTD_human |
| Tgene | IGF2 | C0206624 | Hepatoblastoma | 1 | CTD_human;HPO |
| Tgene | IGF2 | C0678807 | prenatal alcohol exposure | 1 | PSYGENET |
| Tgene | IGF2 | C0752347 | Lewy Body Disease | 1 | CTD_human |
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