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Fusion gene ID: 4068 |
FusionGeneSummary for BCLAF1_PSMB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCLAF1_PSMB1 | Fusion gene ID: 4068 | Hgene | Tgene | Gene symbol | BCLAF1 | PSMB1 | Gene ID | 9774 | 5689 |
| Gene name | BCL2 associated transcription factor 1 | proteasome subunit beta 1 | |
| Synonyms | BTF|bK211L9.1 | HC5|PMSB1|PSC5 | |
| Cytomap | 6q23.3 | 6q27 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bcl-2-associated transcription factor 1BCLAF1 and THRAP3 family member 1 | proteasome subunit beta type-1macropain subunit C5multicatalytic endopeptidase complex subunit C5proteasome (prosome, macropain) subunit, beta type, 1proteasome beta 1 subunitproteasome component C5proteasome gamma chainproteasome subunit HC5testi | |
| Modification date | 20180524 | 20180523 | |
| UniProtAcc | Q9NYF8 | P20618 | |
| Ensembl transtripts involved in fusion gene | ENST00000353331, ENST00000531224, ENST00000527536, ENST00000530767, ENST00000527759, ENST00000031135, ENST00000529917, ENST00000392348, | ENST00000262193, ENST00000462957, | |
| Fusion gene scores | * DoF score | 4 X 3 X 2=24 | 8 X 6 X 4=192 |
| # samples | 4 | 8 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BCLAF1 [Title/Abstract] AND PSMB1 [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 |
| Hgene | BCLAF1 | GO:0043065 | positive regulation of apoptotic process | 10330179 |
| Hgene | BCLAF1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10330179 |
| 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 | DB153796 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| * 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 |
| 5UTR-3CDS | ENST00000353331 | ENST00000262193 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| 5UTR-5UTR | ENST00000353331 | ENST00000462957 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| 5UTR-3CDS | ENST00000531224 | ENST00000262193 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| 5UTR-5UTR | ENST00000531224 | ENST00000462957 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| 5UTR-3CDS | ENST00000527536 | ENST00000262193 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| 5UTR-5UTR | ENST00000527536 | ENST00000462957 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| 5UTR-3CDS | ENST00000530767 | ENST00000262193 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| 5UTR-5UTR | ENST00000530767 | ENST00000462957 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| 5UTR-3CDS | ENST00000527759 | ENST00000262193 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| 5UTR-5UTR | ENST00000527759 | ENST00000462957 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| intron-3CDS | ENST00000031135 | ENST00000262193 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| intron-5UTR | ENST00000031135 | ENST00000462957 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| intron-3CDS | ENST00000529917 | ENST00000262193 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| intron-5UTR | ENST00000529917 | ENST00000462957 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| intron-3CDS | ENST00000392348 | ENST00000262193 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
| intron-5UTR | ENST00000392348 | ENST00000462957 | BCLAF1 | chr6 | 136610851 | - | PSMB1 | chr6 | 170858205 | - |
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FusionProtFeatures for BCLAF1_PSMB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCLAF1 | PSMB1 |
| Death-promoting transcriptional repressor. May beinvolved in cyclin-D1/CCND1 mRNA stability through the SNARPcomplex which associates with both the 3'end of the CCND1 gene andits mRNA. {ECO:0000269|PubMed:18794151}. | Component of the 20S core proteasome complex involved inthe proteolytic degradation of most intracellular proteins. Thiscomplex plays numerous essential roles within the cell byassociating with different regulatory particles. Associated withtwo 19S regulatory particles, forms the 26S proteasome and thusparticipates in the ATP-dependent degradation of ubiquitinatedproteins. The 26S proteasome plays a key role in the maintenanceof protein homeostasis by removing misfolded or damaged proteinsthat could impair cellular functions, and by removing proteinswhose functions are no longer required. Associated with the PA200or PA28, the 20S proteasome mediates ubiquitin-independent proteindegradation. This type of proteolysis is required in severalpathways including spermatogenesis (20S-PA200 complex) orgeneration of a subset of MHC class I-presented antigenic peptides(20S-PA28 complex). {ECO:0000269|PubMed:15244466,ECO:0000269|PubMed:27176742, ECO:0000269|PubMed:8610016}. |
| 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 BCLAF1_PSMB1 |
| 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 BCLAF1_PSMB1 |
| 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 |
| BCLAF1 | CHD1, CLK1, SRRM1, YWHAG, ARRB1, ARRB2, CUL3, CAND1, GRK5, EGFR, ESR1, BARD1, PAXIP1, SMURF1, VCP, CSNK2A1, CBX8, EMD, PAN2, HDAC11, BAG3, CLK3, SRPK2, SRPK1, CLK2, TARDBP, PIN1, ASB3, ASB18, ZBTB1, SART3, MOV10, NXF1, CUL7, OBSL1, SUZ12, RNF2, BMI1, LUZP4, SPIN1, PRMT8, LUC7L, CSNK2A2, LUC7L2, SNIP1, UNK, RPS9, THRAP3, NTRK1, MED4, XPO1, HIST1H3E, AHSA1, FMR1, PRMT1, DDX39B, FXR1, PABPN1, THOC5, SRSF9, APOBEC3B, CDK2, PDGFRB, THOC1, MYH7B, CDKN2AIPNL, ZC3H11A, ALYREF, SPEN, KIAA1429, CHTOP, PPHLN1, CDK12, THOC2, THOC6, THOC7, POLDIP3, THOC3, RBMXL1, GAN, ALKBH3, NANOG, ZMIZ1, CCNB1, SNRNP70, PNN, U2AF2, CORO2A, CYLD, COQ2, DLD, PARK7, UHRF2 | PSMB1 | EXOSC6, DCP2, VHL, DSTYK, RIOK3, CASP4, PASK, FANCG, PLK1, SLX1B, UBC, MYC, INSIG2, PSMA2, PCK1, BCL3, RAD23A, SHFM1, PSMB3, PSMB7, PSMB5, POMP, SERPINE1, PSMA4, SERPINB2, PSEN1, PSMB8, PSMA7, FKBP8, UCHL5, PSMB2, PSMA1, PSMA3, PSMA5, PSMA6, PSMB4, PSMB6, PSMC4, PSMD11, PSMD12, PSMD13, PSMD1, PSMD2, PSMD3, PSMD8, PSMD6, PSMC3, PSMC1, PSMD4, PSMC5, PSMC6, PSMC2, PSMD7, PSMD14, PSME1, PSME3, PSME2, PSMD5, PSMA8, PSMB10, UFM1, RBM8A, CCT5, UBE2A, UBE4B, SF3A1, NOTCH2, RPL5, RPL10A, UBE2V1, SNX3, RPL24, RPS23, RPL7A, FBXO28, SRSF2, SUGT1, RPS15A, EPAS1, FN1, VCAM1, IQCB1, ITGA4, CFTR, PARK2, BAG3, HECW2, AP3M1, HNRNPA2B1, SEC13, DDB2, RPP30, RPP38, SMEK1, PSME4, PYCRL, PSMG3, CDKN1B, HAUS2, KIFC3, KRT13, KRT15, TRIM27, TRAF1, MAPRE3, AMFR, SYVN1, PSMB9, UNK, ADRM1, ASNA1, CLIC4, HSD17B10, MRPS9, PEX19, PGK1, MED4, MCM2, MID1, ENPP1, FBXO7, PSMG2, PSMF1, PSMG1, MAPRE2, MAPRE1, CYLD |
| - 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 BCLAF1_PSMB1 |
| 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 | PSMB1 | P20618 | DB00188 | Bortezomib | Proteasome subunit beta type-1 | small molecule | approved|investigational |
| Tgene | PSMB1 | P20618 | DB08889 | Carfilzomib | Proteasome subunit beta type-1 | small molecule | approved|investigational |
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RelatedDiseases for BCLAF1_PSMB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BCLAF1 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Tgene | PSMB1 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | PSMB1 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Tgene | PSMB1 | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
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