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Fusion gene ID: 4094 |
FusionGeneSummary for BCR_PPIL2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCR_PPIL2 | Fusion gene ID: 4094 | Hgene | Tgene | Gene symbol | BCR | PPIL2 | Gene ID | 613 | 23759 |
| Gene name | BCR, RhoGEF and GTPase activating protein | peptidylprolyl isomerase like 2 | |
| Synonyms | ALL|BCR1|CML|D22S11|D22S662|PHL | CYC4|CYP60|Cyp-60|UBOX7|hCyP-60 | |
| Cytomap | 22q11.23 | 22q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | breakpoint cluster region proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26 | peptidyl-prolyl cis-trans isomerase-like 2PPIaseRING-type E3 ubiquitin transferase isomerase-like 2U-box domain containing 7cyclophilin, 60kDacyclophilin-60cyclophilin-like protein CyP-60peptidylprolyl cis-trans isomerasepeptidylprolyl isomerase ( | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P11274 | Q13356 | |
| Ensembl transtripts involved in fusion gene | ENST00000305877, ENST00000359540, ENST00000398512, ENST00000436990, | ENST00000412327, ENST00000335025, ENST00000492445, ENST00000398831, ENST00000406385, ENST00000456792, ENST00000446951, | |
| Fusion gene scores | * DoF score | 17 X 39 X 8=5304 | 4 X 4 X 3=48 |
| # samples | 70 | 4 | |
| ** MAII score | log2(70/5304*10)=-2.92165394828026 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BCR [Title/Abstract] AND PPIL2 [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 |
| Tgene | PPIL2 | GO:0000209 | protein polyubiquitination | 11435423 |
| 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 | BLCA | TCGA-FD-A43N-01A | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| * 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 | ENST00000305877 | ENST00000412327 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000305877 | ENST00000335025 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000305877 | ENST00000492445 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000305877 | ENST00000398831 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000305877 | ENST00000406385 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000305877 | ENST00000456792 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| 5CDS-3UTR | ENST00000305877 | ENST00000446951 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000359540 | ENST00000412327 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000359540 | ENST00000335025 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000359540 | ENST00000492445 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000359540 | ENST00000398831 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000359540 | ENST00000406385 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| Frame-shift | ENST00000359540 | ENST00000456792 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| 5CDS-3UTR | ENST00000359540 | ENST00000446951 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000398512 | ENST00000412327 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000398512 | ENST00000335025 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000398512 | ENST00000492445 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000398512 | ENST00000398831 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000398512 | ENST00000406385 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000398512 | ENST00000456792 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3UTR | ENST00000398512 | ENST00000446951 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000436990 | ENST00000412327 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000436990 | ENST00000335025 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000436990 | ENST00000492445 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000436990 | ENST00000398831 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000436990 | ENST00000406385 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3CDS | ENST00000436990 | ENST00000456792 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
| intron-3UTR | ENST00000436990 | ENST00000446951 | BCR | chr22 | 23615961 | + | PPIL2 | chr22 | 22048105 | + |
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FusionProtFeatures for BCR_PPIL2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCR | PPIL2 |
| GTPase-activating protein for RAC1 and CDC42. Promotesthe exchange of RAC or CDC42-bound GDP by GTP, thereby activatingthem. Displays serine/threonine kinase activity.{ECO:0000269|PubMed:1657398, ECO:0000269|PubMed:1903516}. | Has a ubiquitin-protein ligase activity acting as an E3ubiquitin protein ligase or as an ubiquitin-ubiquitin ligasepromoting elongation of ubiquitin chains on substrates. Bymediating 'Lys-48'-linked polyubiquitination of proteins couldtarget them for proteasomal degradation (PubMed:11435423). Mayalso function as a chaperone, playing a role in transport to thecell membrane of BSG/Basigin for instance (PubMed:15946952).Probable inactive PPIase with no peptidyl-prolyl cis-transisomerase activity (PubMed:20676357).{ECO:0000269|PubMed:11435423, ECO:0000269|PubMed:15946952,ECO:0000269|PubMed:20676357}. |
| 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 BCR_PPIL2 |
| 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 BCR_PPIL2 |
| 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 |
| BCR | MLLT4, HCK, PTPN6, FES, RB1, ERCC3, GRB2, ABL1, GAB2, HOXA9, CRKL, KIT, PIK3CG, IGSF21, TP53, UNC119, SOS1, PXN, RAC1, CDC42, RHOA, IL3, WDR48, TSG101, VPS28, INPP5D, MYC, HSP90AA1, HSPA8, HIF1A, CRK, GABRR1, CBL, LNX1, LRRK1, GRK5, UBASH3B, PIK3R2, SHC1, AP2M1, CFTR, ERBB2IP, DOK1, PTGES3, HSPA4, HSPD1, UBC, CSNK2A2, STUB1, CCDC183, RSPH9, SEC13, NTRK1, CEP128, NINL, XPO1, PIK3R1, PDZK1, COMMD1, TULP3, JPH4, NAGK, USP15, SPAG9, MCM2, MCM4, WEE1, CSNK1A1, MCM6, TRIM25, RAD51 | PPIL2 | CALM1, HSP90AA1, PPIL2, BSG, APP, PRCC, ZNF830, TRIM23, FGL1, FKBP6, MAPK14, NTRK1, HIST1H2BG, PDGFRA, BAIAP2, PIM2, KLC2, VPS26B, KLC3, KANSL2, NAGK |
| - 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 BCR_PPIL2 |
| 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 | BCR | P11274 | DB06616 | Bosutinib | Breakpoint cluster region protein | small molecule | approved |
| Hgene | BCR | P11274 | DB01254 | Dasatinib | Breakpoint cluster region protein | small molecule | approved|investigational |
| Hgene | BCR | P11274 | DB08901 | Ponatinib | Breakpoint cluster region protein | small molecule | approved|investigational |
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RelatedDiseases for BCR_PPIL2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BCR | C0005586 | Bipolar Disorder | 4 | PSYGENET |
| Hgene | BCR | C0023473 | Myeloid Leukemia, Chronic | 3 | CTD_human;HPO;ORPHANET |
| Hgene | BCR | C0005699 | Blast Phase | 1 | CTD_human |
| Hgene | BCR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | BCR | C0027022 | Myeloproliferative disease | 1 | CTD_human;HPO |
| Hgene | BCR | C0027540 | Necrosis | 1 | CTD_human |
| Hgene | BCR | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Hgene | BCR | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | BCR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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