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Fusion gene ID: 30924 |
FusionGeneSummary for REG1B_IGF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: REG1B_IGF2 | Fusion gene ID: 30924 | Hgene | Tgene | Gene symbol | REG1B | IGF2 | Gene ID | 5968 | 3481 |
| Gene name | regenerating family member 1 beta | insulin like growth factor 2 | |
| Synonyms | PSPS2|REGH|REGI-BETA|REGL | C11orf43|GRDF|IGF-II|PP9974 | |
| Cytomap | 2p12 | 11p15.5 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lithostathine-1-betaPSP-2REG-1-betapancreatic stone protein 2regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)regenerating islet-derived protein 1-betaregenerating protein I betasecretory pancreatic stone prote | 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 | P48304 | P01344 | |
| Ensembl transtripts involved in fusion gene | ENST00000305089, | ENST00000381395, ENST00000381406, ENST00000416167, ENST00000300632, ENST00000434045, ENST00000381392, ENST00000381389, ENST00000418738, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 23 X 24 X 8=4416 |
| # samples | 2 | 20 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(20/4416*10)=-4.46466826700344 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: REG1B [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 | PAAD | TCGA-LB-A8F3-01A | REG1B | chr2 | 79312176 | - | IGF2 | chr11 | 2152897 | - |
| * 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 | ENST00000305089 | ENST00000381395 | REG1B | chr2 | 79312176 | - | IGF2 | chr11 | 2152897 | - |
| intron-3UTR | ENST00000305089 | ENST00000381406 | REG1B | chr2 | 79312176 | - | IGF2 | chr11 | 2152897 | - |
| intron-3UTR | ENST00000305089 | ENST00000416167 | REG1B | chr2 | 79312176 | - | IGF2 | chr11 | 2152897 | - |
| intron-3UTR | ENST00000305089 | ENST00000300632 | REG1B | chr2 | 79312176 | - | IGF2 | chr11 | 2152897 | - |
| intron-intron | ENST00000305089 | ENST00000434045 | REG1B | chr2 | 79312176 | - | IGF2 | chr11 | 2152897 | - |
| intron-intron | ENST00000305089 | ENST00000381392 | REG1B | chr2 | 79312176 | - | IGF2 | chr11 | 2152897 | - |
| intron-intron | ENST00000305089 | ENST00000381389 | REG1B | chr2 | 79312176 | - | IGF2 | chr11 | 2152897 | - |
| intron-intron | ENST00000305089 | ENST00000418738 | REG1B | chr2 | 79312176 | - | IGF2 | chr11 | 2152897 | - |
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FusionProtFeatures for REG1B_IGF2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| REG1B | IGF2 |
| Might act as an inhibitor of spontaneous calciumcarbonate precipitation. May be associated with neuronal sproutingin brain, and with brain and pancreas regeneration. |
| 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 REG1B_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 REG1B_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 |
| REG1B | BAG6, REG1A, NUP155 | 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 REG1B_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 REG1B_IGF2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| 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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